NCPI Project Forge Implementation Guide
0.1.0 - CI Build

NCPI Project Forge Implementation Guide - Local Development build (v0.1.0). See the Directory of published versions

ValueSet: NCPI Project Forge ValueSet/phenotype-codes

Summary

Defining URL:http://fhir.ncpi-project-forge.io/ValueSet/phenotype-codes
Version:0.1.0
Name:phenotype-codes
Title:Phenotype Codes
Status:Draft as of 2020-10-28T19:50:25+00:00
Definition:

This value set includes all codes from Human Phenotype Ontology.

Publisher:NCPI Project Forge
Source Resource:XML / JSON / Turtle

References

Logical Definition (CLD)

  • Include all codes defined in http://purl.obolibrary.org/obo/hp.owl

 

Expansion

This value set contains 26435 concepts

Expansion based on http://purl.obolibrary.org/obo/hp.owl version http://purl.obolibrary.org/obo/hp/releases/2020-06-08/hp.owl

All codes from system http://purl.obolibrary.org/obo/hp.owl

CodeDisplay
http://purl.obolibrary.org/obo/CHEBI_27311volatile oil component
HP:0100610Maternal hyperphenylalaninemia
HP:0100611Multiple glomerular cysts
HP:0100614Myositis
HP:0100613Death in early adulthood
HP:0100616Testicular teratoma
HP:0002253Colonic diverticula
http://purl.obolibrary.org/obo/UBERON_0003043posterior part of anterior commissure
HP:0100618Leydig cell neoplasia
HP:0100617Testicular seminoma
HP:0002254Intermittent diarrhea
http://purl.obolibrary.org/obo/UBERON_0017692internal surface of cranial base
http://purl.obolibrary.org/obo/UBERON_0003059presomitic mesoderm
http://purl.obolibrary.org/obo/UBERON_0017690internal surface of frontal bone
HP:0100601Eclampsia
HP:0100600Penoscrotal transposition
http://purl.obolibrary.org/obo/UBERON_0003051ear vesicle
HP:0100602Preeclampsia
http://purl.obolibrary.org/obo/UBERON_0003052midbrain-hindbrain boundary
HP:0002263Exaggerated cupid's bow
HP:0100604Neoplasm of the lip
HP:0100607Dysmenorrhea
http://purl.obolibrary.org/obo/UBERON_0003056pre-chordal neural plate
http://purl.obolibrary.org/obo/UBERON_0003057chordal neural plate
HP:0100608Metrorrhagia
http://purl.obolibrary.org/obo/CHEBI_15356cysteine
HP:0002265Large fleshy ears
HP:0002268Paroxysmal dystonia
http://purl.obolibrary.org/obo/UBERON_0003050olfactory placode
HP:0002267Exaggerated startle response
http://purl.obolibrary.org/obo/CHEBI_29994D-aspartate(2-)
http://purl.obolibrary.org/obo/UBERON_0029636lumbar spinal cord gray matter
http://purl.obolibrary.org/obo/CL_1001516intestinal enteroendocrine cell
HP:0002273Tetraparesis
http://purl.obolibrary.org/obo/UBERON_0003063prechordal plate
http://purl.obolibrary.org/obo/UBERON_0003064intermediate mesoderm
http://purl.obolibrary.org/obo/CHEBI_29990D-aspartate(1-)
http://purl.obolibrary.org/obo/UBERON_0003066pharyngeal arch 2
http://purl.obolibrary.org/obo/CHEBI_29991L-aspartate(1-)
http://purl.obolibrary.org/obo/UBERON_0003068axial mesoderm
http://purl.obolibrary.org/obo/CHEBI_29993L-aspartate(2-)
http://purl.obolibrary.org/obo/CHEBI_29995aspartate(2-)
http://purl.obolibrary.org/obo/UBERON_0003069otic placode
http://purl.obolibrary.org/obo/UBERON_0003060pronephric duct
http://purl.obolibrary.org/obo/CHEBI_66916alanine zwitterion
http://purl.obolibrary.org/obo/CL_0002400Fraction B/C precursor B cell
http://purl.obolibrary.org/obo/CHEBI_29985L-glutamate(1-)
http://purl.obolibrary.org/obo/CHEBI_29986D-glutamate(1-)
http://purl.obolibrary.org/obo/CHEBI_29988L-glutamate(2-)
http://purl.obolibrary.org/obo/CHEBI_29989D-glutamate(2-)
http://purl.obolibrary.org/obo/CHEBI_29987glutamate(2-)
http://purl.obolibrary.org/obo/UBERON_0003073lens placode
http://purl.obolibrary.org/obo/UBERON_0003074mesonephric duct
HP:0002283Global brain atrophy
HP:0002286Fair hair
http://purl.obolibrary.org/obo/UBERON_0003076posterior neural tube
http://purl.obolibrary.org/obo/UBERON_0003077paraxial mesoderm
http://purl.obolibrary.org/obo/CHEBI_17996chloride
HP:0002280Enlarged cisterna magna
http://purl.obolibrary.org/obo/UBERON_0003070trigeminal placode complex
http://purl.obolibrary.org/obo/UBERON_0003067dorsolateral placode
HP:0002287Progressive alopecia
http://purl.obolibrary.org/obo/CHEBI_66922citrullinate
http://purl.obolibrary.org/obo/UBERON_0003071eye primordium
http://purl.obolibrary.org/obo/UBERON_0003072optic cup
HP:0002289Alopecia universalis
http://purl.obolibrary.org/obo/CHEBI_66924creatinate
http://purl.obolibrary.org/obo/CL_1001573nasopharyngeal epithelial cell
http://purl.obolibrary.org/obo/CL_1001575uterine cervix squamous cell
http://purl.obolibrary.org/obo/CL_0002436mature CD4 single-positive thymocyte
http://purl.obolibrary.org/obo/CL_1001576oral mucosa squamous cell
http://purl.obolibrary.org/obo/CL_0002437mature CD8 single-positive thymocyte
http://purl.obolibrary.org/obo/CL_1001577tonsil squamous cell
http://purl.obolibrary.org/obo/CL_0002434CD24-positive, CD8 single-positive thymocyte
http://purl.obolibrary.org/obo/UBERON_0005669peritoneal cavity mesothelium
HP:0002218Silver-gray hair
http://purl.obolibrary.org/obo/CL_1001578vagina squamous cell
http://purl.obolibrary.org/obo/CL_0002435CD69-positive, CD8-positive single-positive thymocyte
http://purl.obolibrary.org/obo/CL_0002432CD24-positive, CD4 single-positive thymocyte
http://purl.obolibrary.org/obo/UBERON_0005667connecting stalk mesoderm
http://purl.obolibrary.org/obo/UBERON_00056664th arch endoderm
http://purl.obolibrary.org/obo/CL_0002433CD69-positive, CD4-positive single-positive thymocyte
http://purl.obolibrary.org/obo/MPATH_622steatosis
HP:0004870Chronic hemolytic anemia
HP:0002215Sparse axillary hair
http://purl.obolibrary.org/obo/UBERON_00056653rd arch endoderm
HP:0004876Spontaneous neonatal pneumothorax
http://purl.obolibrary.org/obo/UBERON_00056642nd arch endoderm
HP:0004878Intercostal muscle weakness
http://purl.obolibrary.org/obo/UBERON_00056624th arch ectoderm
http://purl.obolibrary.org/obo/UBERON_0017648ventral body wall
HP:0002211White forelock
http://purl.obolibrary.org/obo/UBERON_00056613rd arch ectoderm
HP:0004872Incisional hernia
http://purl.obolibrary.org/obo/UBERON_0017649dorsal body wall
http://purl.obolibrary.org/obo/UBERON_00056602nd arch ectoderm
http://purl.obolibrary.org/obo/CL_1001581lateral ventricle glial cell
http://purl.obolibrary.org/obo/CL_1001582lateral ventricle neuron
HP:0002213Fine hair
HP:0004875Neonatal inspiratory stridor
http://purl.obolibrary.org/obo/CL_0002427resting double-positive thymocyte
http://purl.obolibrary.org/obo/CL_0002428double-positive blast
http://purl.obolibrary.org/obo/CL_0002425early T lineage precursor
http://purl.obolibrary.org/obo/CL_1001586mammary gland glandular cell
http://purl.obolibrary.org/obo/CL_1001587uterine cervix glandular cell
http://purl.obolibrary.org/obo/CL_1001588colon glandular cell
http://purl.obolibrary.org/obo/CL_0002423DN2a thymocyte
http://purl.obolibrary.org/obo/MPATH_615cardiomyopathy
http://purl.obolibrary.org/obo/CL_1001589duodenum glandular cell
http://purl.obolibrary.org/obo/CL_0002424DN2b thymocyte
http://purl.obolibrary.org/obo/UBERON_0017654buccal gland
http://purl.obolibrary.org/obo/CL_0002421nucleated reticulocyte
http://purl.obolibrary.org/obo/CL_0002429CD69-positive double-positive thymocyte
HP:0004880Respiratory infections in early life
HP:0004881Episodic hypoventilation
http://purl.obolibrary.org/obo/CL_0002430CD4-intermediate, CD8-positive double-positive thymocyte
HP:0002226White eyebrow
http://purl.obolibrary.org/obo/CL_0002431CD4-positive, CD8-intermediate double-positive thymocyte
HP:0002225Sparse pubic hair
HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness
http://purl.obolibrary.org/obo/UBERON_0005673left lung endothelium
HP:0002227White eyelashes
http://purl.obolibrary.org/obo/UBERON_0017659ventral surface of penis
http://purl.obolibrary.org/obo/CL_1001590epididymis glandular cell
http://purl.obolibrary.org/obo/UBERON_0005672right lung endothelium
http://purl.obolibrary.org/obo/CL_1001592gall bladder glandular cell
HP:0002221Absent axillary hair
HP:0004885Episodic respiratory distress
HP:0002223Absent eyebrow
HP:0004886Congenital laryngeal stridor
http://purl.obolibrary.org/obo/MPATH_608abscess
http://purl.obolibrary.org/obo/CHEBI_15361pyruvate
http://purl.obolibrary.org/obo/UBERON_0005688lens vesicle cavity
http://purl.obolibrary.org/obo/MPATH_607healing and repair structure
HP:0004891Recurrent infections due to aspiration
HP:0002231Sparse body hair
HP:0002230Generalized hirsutism
http://purl.obolibrary.org/obo/UBERON_0003023pontine tegmentum
http://purl.obolibrary.org/obo/UBERON_0005687orbitosphenoid cartilage element
HP:0004898Persistent lactic acidosis
HP:0002236Frontal upsweep of hair
http://purl.obolibrary.org/obo/UBERON_0005685midgut dorsal mesentery
http://purl.obolibrary.org/obo/CHEBI_15366acetic acid
http://purl.obolibrary.org/obo/CHEBI_15367all-trans-retinoic acid
HP:0004894Laryngotracheal stenosis
HP:0002235Pili canaliculi
HP:0004897Stress/infection-induced lactic acidosis
HP:0002234Early balding
http://purl.obolibrary.org/obo/UBERON_0017670bony part of cervical vertebral arch
http://purl.obolibrary.org/obo/UBERON_0017671bony part of vertebral arch of first sacral vertebra
http://purl.obolibrary.org/obo/CL_1001567lung endothelial cell
http://purl.obolibrary.org/obo/CL_1001568pulmonary artery endothelial cell
http://purl.obolibrary.org/obo/UBERON_0005699pedal digit 5 mesenchyme
http://purl.obolibrary.org/obo/UBERON_0003038thoracic spinal cord
http://purl.obolibrary.org/obo/UBERON_0003039anterior commissure anterior part
http://www.informatics.jax.org/marker/MGI:1202394Cblif (mouse)
http://purl.obolibrary.org/obo/CHEBI_27363zinc atom
http://purl.obolibrary.org/obo/UBERON_0005698pedal digit 4 mesenchyme
HP:0002248Hematemesis
HP:0002247Duodenal atresia
http://purl.obolibrary.org/obo/CL_0002453oligodendrocyte precursor cell
http://purl.obolibrary.org/obo/UBERON_0005697pedal digit 3 mesenchyme
http://purl.obolibrary.org/obo/UBERON_0005696pedal digit 2 mesenchyme
HP:0002249Melena
http://purl.obolibrary.org/obo/UBERON_0005695manual digit 5 mesenchyme
http://purl.obolibrary.org/obo/UBERON_0005694manual digit 4 mesenchyme
http://purl.obolibrary.org/obo/CHEBI_15379dioxygen
http://purl.obolibrary.org/obo/UBERON_0005693manual digit 3 mesenchyme
HP:0002243Protein-losing enteropathy
http://purl.obolibrary.org/obo/UBERON_0005692manual digit 2 mesenchyme
http://purl.obolibrary.org/obo/CL_1001572colon endothelial cell
HP:0002245Meckel diverticulum
http://purl.obolibrary.org/obo/UBERON_0005626ventral mesogastrium
HP:0100690Mosaic central corneal dystrophy
http://purl.obolibrary.org/obo/UBERON_0005625tubotympanic recess lumen
http://purl.obolibrary.org/obo/UBERON_0005622right dorsal aorta
HP:0100694Tibial torsion
HP:0100693Iridodonesis
HP:0100695Lipedema
HP:0100698Subcutaneous neurofibromas
HP:0100697Neurofibrosarcoma
http://purl.obolibrary.org/obo/UBERON_0005620primary palate
http://purl.obolibrary.org/obo/CHEBI_17924D-glucitol
http://purl.obolibrary.org/obo/PR_P55095glucagon (mouse)
http://purl.obolibrary.org/obo/UBERON_0005638anterior chamber epithelium
http://purl.obolibrary.org/obo/UBERON_0005637pyloric region epithelium
HP:0100681Esophageal duplication
HP:0100682Tracheal atresia
HP:0100687Polyotia
HP:0100686Enthesitis
http://purl.obolibrary.org/obo/CHEBI_17933calcidiol
http://purl.obolibrary.org/obo/UBERON_0017615vomerine dentition
http://purl.obolibrary.org/obo/CL_1001595rectum glandular cell
http://purl.obolibrary.org/obo/CL_1001597seminal vesicle glandular cell
http://purl.obolibrary.org/obo/UBERON_0005649pedal digit 2 epithelium
http://purl.obolibrary.org/obo/CL_1001598small intestine glandular cell
http://purl.obolibrary.org/obo/UBERON_0005648manual digit 5 epithelium
http://purl.obolibrary.org/obo/UBERON_0005647manual digit 4 epithelium
http://purl.obolibrary.org/obo/UBERON_0005646manual digit 3 epithelium
http://purl.obolibrary.org/obo/UBERON_0005645manual digit 2 epithelium
HP:0100670Rough bone trabeculation
HP:0100674Vaginal hematocele
HP:0100673Vaginal hydrocele
HP:0100676Vaginal lymphocele
HP:0100675Vaginal pyocele
HP:0100677Vulval varicose vein
http://purl.obolibrary.org/obo/UBERON_0005659primary palate epithelium
http://purl.obolibrary.org/obo/UBERON_0005658secondary palatal shelf epithelium
http://purl.obolibrary.org/obo/UBERON_0005656lens vesicle epithelium
HP:0100661Trigeminal neuralgia
HP:0100663Synotia
HP:0100662Chondritis
HP:0100665Angioedema
http://purl.obolibrary.org/obo/UBERON_0005654lower jaw molar epithelium
http://purl.obolibrary.org/obo/UBERON_0005653upper jaw molar epithelium
http://purl.obolibrary.org/obo/UBERON_0005652pedal digit 5 epithelium
http://purl.obolibrary.org/obo/UBERON_0005651pedal digit 4 epithelium
http://purl.obolibrary.org/obo/UBERON_0005650pedal digit 3 epithelium
http://purl.obolibrary.org/obo/CHEBI_309162-oxoglutarate(1-)
HP:0100651Type I diabetes mellitus
HP:0100654Retrobulbar optic neuritis
HP:0100653Optic neuritis
http://purl.obolibrary.org/obo/CHEBI_309152-oxoglutaric acid
HP:0100658Cellulitis
http://purl.obolibrary.org/obo/CHEBI_30921glutarate(2-)
HP:0100657Thoracoabdominal eventration
HP:0100656Thoracoabdominal wall defect
HP:0002297Red hair
HP:0002296Progressive hypotrichosis
http://purl.obolibrary.org/obo/CHEBI_309203-hydroxy-3-methylglutarate(1-)
HP:0002290Poliosis
HP:0002292Frontal balding
http://purl.obolibrary.org/obo/CHEBI_17968butyrate
HP:0100640Laryngeal cyst
http://purl.obolibrary.org/obo/CHEBI_29922sulfo group
HP:0100645Cystocele
HP:0100644Melanonychia
HP:0100647Graves disease
http://purl.obolibrary.org/obo/CHEBI_15318xanthine
http://purl.obolibrary.org/obo/UBERON_0005606hyaloid cavity
http://purl.obolibrary.org/obo/UBERON_0005604extrahepatic part of hepatic duct
http://purl.obolibrary.org/obo/UBERON_0005602dorsal mesogastrium
HP:0100636Pulmonary paraglioma
HP:0100635Carotid paraganglioma
HP:0100638Neoplasm of the pharynx
http://purl.obolibrary.org/obo/UBERON_0005614lens anterior epithelium
http://purl.obolibrary.org/obo/UBERON_0005613left dorsal aorta
HP:0100621Dysgerminoma
http://purl.obolibrary.org/obo/UBERON_0005619secondary palatal shelf
HP:0100622Maternal seizure
HP:0100624Corpus cavernosum sclerosis
HP:0100623Abnormality of corpus cavernosum
HP:0100626Chronic hepatic failure
HP:0100628Esophageal diverticulum
http://purl.obolibrary.org/obo/PR_000046634PR:000046634 located_in GO:0005886
http://purl.obolibrary.org/obo/CHEBI_52290mitogen
http://purl.obolibrary.org/obo/PR_000046625CD27 antigen, signal peptide removed form (human)
http://purl.obolibrary.org/obo/PR_000046624PR:000046624 located_in GO:0005886
http://purl.obolibrary.org/obo/GO_0042405nuclear inclusion body
http://purl.obolibrary.org/obo/PR_000046618PR:000046618 located_in GO:0005886
http://purl.obolibrary.org/obo/PR_000046654PR:000046654 located_in GO:0005886
http://purl.obolibrary.org/obo/PR_000046653PR:000046653 located_in GO:0005886
http://purl.obolibrary.org/obo/PR_000046641CD44 antigen, signal peptide removed form (human)
http://purl.obolibrary.org/obo/PR_000046639PR:000046639 located_in GO:0005886
HP:0004836Acute promyelocytic leukemia
http://purl.obolibrary.org/obo/PATO_0001987saccular
HP:0004839Pyropoikilocytosis
HP:0004835Microspherocytosis
HP:0004831Recurrent thromboembolism
http://purl.obolibrary.org/obo/GO_0042493response to drug
HP:0004848Ph-positive acute lymphoblastic leukemia
http://purl.obolibrary.org/obo/PATO_0001977angular
http://purl.obolibrary.org/obo/CHEBI_27266valine
HP:0004844Coombs-positive hemolytic anemia
HP:0004845Acute monocytic leukemia
HP:0004846Prolonged bleeding after surgery
HP:0004840Hypochromic microcytic anemia
HP:0004841Reduced factor XII activity
HP:0004859Amegakaryocytic thrombocytopenia
HP:0004854Intermittent thrombocytopenia
HP:0004855Reduced protein S activity
http://purl.obolibrary.org/obo/CHEBI_66874carnosinate
HP:0004856Normochromic microcytic anemia
HP:0004857Hyperchromic macrocytic anemia
HP:0004850Recurrent deep vein thrombosis
HP:0004851Folate-responsive megaloblastic anemia
HP:0002208Coarse hair
HP:0002207Diffuse reticular or finely nodular infiltrations
http://purl.obolibrary.org/obo/PATO_0001997decreased amount
http://purl.obolibrary.org/obo/GO_0042470melanosome
http://purl.obolibrary.org/obo/PATO_0001993multicellular
http://purl.obolibrary.org/obo/PATO_0001992cellularity
HP:0004860Thiamine-responsive megaloblastic anemia
http://purl.obolibrary.org/obo/GO_0042465kinesis
HP:0002203Respiratory paralysis
HP:0004866Impaired ADP-induced platelet aggregation
HP:0004861Refractory macrocytic anemia
HP:0004863Compensated hemolytic anemia
HP:0004864Refractory sideroblastic anemia
http://purl.obolibrary.org/obo/CHEBI_76283sebacate(2-)
HP:0004808Acute myeloid leukemia
HP:0004809Neonatal alloimmune thrombocytopenia
http://purl.obolibrary.org/obo/PR_P06127T-cell surface glycoprotein CD5 (human)
HP:0004804Congenital hemolytic anemia
http://purl.obolibrary.org/obo/GO_2001199negative regulation of dendritic cell differentiation
http://purl.obolibrary.org/obo/MPATH_579ulcer
http://purl.obolibrary.org/obo/MPATH_574nephroblastomatosis
HP:0004800Duodenal diverticula
HP:0004802Episodic hemolytic anemia
HP:0004818Paroxysmal nocturnal hemoglobinuria
HP:0004819Normocytic hypoplastic anemia
HP:0004814Fava bean-induced hemolytic anemia
http://purl.obolibrary.org/obo/PR_000046612B-lymphocyte antigen CD19, signal peptide removed form (human)
HP:0004817Drug-sensitive hemolytic anemia
http://purl.obolibrary.org/obo/GO_0030421defecation
http://purl.obolibrary.org/obo/GO_0030424axon
HP:0004810Congenital hypoplastic anemia
HP:0004812B Acute Lymphoblastic Leukemia
HP:0004813Post-transfusion thrombocytopenia
http://purl.obolibrary.org/obo/PR_000046603C-C chemokine receptor type 7, signal peptide removed form (human)
HP:0004825Increased hemoglobin oxygen affinity
HP:0004826Folate-unresponsive megaloblastic anemia
http://purl.obolibrary.org/obo/CL_1001602cerebral cortex endothelial cell
HP:0004828Refractory anemia with ringed sideroblasts
http://purl.obolibrary.org/obo/CL_1001603lung macrophage
http://purl.obolibrary.org/obo/CL_1001608foreskin fibroblast
http://purl.obolibrary.org/obo/GO_0030432peristalsis
http://purl.obolibrary.org/obo/CL_1001609muscle fibroblast
HP:0004821Hypersegmentation of neutrophil nuclei
HP:0004822Atypical elliptocytosis
HP:0004823Anisopoikilocytosis
HP:0004820Acute myelomonocytic leukemia
http://purl.obolibrary.org/obo/CHEBI_30839orotate
HP:0100730Bronchogenic cyst
HP:0100732Pancreatic fibrosis
HP:0100735Hypertensive crisis
HP:0002372Normal interictal EEG
HP:0100734Abnormality of vertebral epiphysis morphology
HP:0002371Loss of speech
HP:0100739Bulimia
http://purl.obolibrary.org/obo/CHEBI_17883hydrogen chloride
HP:0002376Developmental regression
HP:0002375Hypokinesia
HP:0002378Hand tremor
http://purl.obolibrary.org/obo/CHEBI_17893(2R)-2-hydroxy monocarboxylic acid
HP:0100720Hypoplasia of the ear cartilage
HP:0100721Mediastinal lymphadenopathy
HP:0100724Hypercoagulability
HP:0002383Encephalitis
HP:0100723Gastrointestinal stroma tumor
HP:0100726Kaposi's sarcoma
http://purl.obolibrary.org/obo/CHEBI_17898all-trans-retinal
http://purl.obolibrary.org/obo/UBERON_0005598trunk somite
http://purl.obolibrary.org/obo/UBERON_0005597lung primordium
http://purl.obolibrary.org/obo/GO_0150110negative regulation of cholesterol esterification
http://purl.obolibrary.org/obo/UBERON_0005594head somite
HP:0002389Cavum septum pellucidum
http://purl.obolibrary.org/obo/CHEBI_27216urate(2-)
HP:0100710Impulsivity
HP:0002396Cogwheel rigidity
HP:0002390Spinal arteriovenous malformation
HP:0100717Abnormality of the cementum
HP:0100719Lens coloboma
http://purl.obolibrary.org/obo/CHEBI_30860methylmalonic acid
HP:0002392EEG with polyspike wave complexes
HP:0100718Uterine rupture
http://purl.obolibrary.org/obo/CHEBI_30861methylmalonate(1-)
HP:0002398Degeneration of anterior horn cells
http://purl.obolibrary.org/obo/CHEBI_27208unsaturated fatty acid
http://purl.obolibrary.org/obo/UBERON_0029503sacral spinal cord gray matter
http://purl.obolibrary.org/obo/CHEBI_30848urate(1-)
HP:0100701Abnormal pia mater
HP:0100704Cerebral visual impairment
HP:0100703Tongue thrusting
HP:0100708Abnormality of the microglia
HP:0100709Reduction of oligodendroglia
HP:0100706Abnormality of the oligodendroglia
http://purl.obolibrary.org/obo/CL_0002313endocrine-paracrine cell of prostate gland
HP:0004990Epiphyseal streaking
HP:0002330Paroxysmal drowsiness
HP:0004991Rhizomelic arm shortening
HP:0004997Multicentric ossification of proximal humeral epiphyses
HP:0002335Agenesis of cerebellar vermis
HP:0002332Lack of peer relationships
HP:0004993Slender long bones with narrow diaphyses
HP:0002331Recurrent paroxysmal headache
HP:0002333Motor deterioration
http://purl.obolibrary.org/obo/PR_P215895'-nucleotidase (human)
http://purl.obolibrary.org/obo/CHEBI_29888diphosphoric acid
http://purl.obolibrary.org/obo/CHEBI_27226uric acid
HP:0002341Cervical cord compression
HP:0002340Caudate atrophy
HP:0002343Normal pressure hydrocephalus
HP:0002342Intellectual disability, moderate
http://purl.obolibrary.org/obo/CL_0002339prostate stem cell
http://purl.obolibrary.org/obo/CL_0002338CD56-positive, CD161-positive immature natural killer cell
http://purl.obolibrary.org/obo/UBERON_0005568rhombomere 1 roof plate
http://purl.obolibrary.org/obo/UBERON_0005567rhombomere 1 lateral wall
HP:0002357Dysphasia
http://purl.obolibrary.org/obo/UBERON_0005565facio-acoustic neural crest
http://purl.obolibrary.org/obo/UBERON_0005564gonad primordium
HP:0002359Frequent falls
http://purl.obolibrary.org/obo/UBERON_0005563trigeminal neural crest
http://purl.obolibrary.org/obo/UBERON_0005562thymus primordium
HP:0002356Writer's cramp
HP:0002355Difficulty walking
http://purl.obolibrary.org/obo/MPATH_718pre-sacral teratoma
http://purl.obolibrary.org/obo/CL_0002327mammary gland epithelial cell
http://purl.obolibrary.org/obo/CL_0002323amniocyte
http://purl.obolibrary.org/obo/CHEBI_27247urocanate
http://purl.obolibrary.org/obo/CHEBI_27248urocanic acid
HP:0002361Psychomotor deterioration
http://purl.obolibrary.org/obo/CL_0002332ciliated cell of the bronchus
http://purl.obolibrary.org/obo/CL_0002328bronchial epithelial cell
HP:0002365Hypoplasia of the brainstem
HP:0002367Visual hallucinations
HP:0002366Abnormal lower motor neuron morphology
http://purl.obolibrary.org/obo/UBERON_0005502rhombomere roof plate
http://purl.obolibrary.org/obo/UBERON_0003054roof plate
http://purl.obolibrary.org/obo/UBERON_0005501rhombomere lateral wall
HP:0100792Acantholysis
HP:0100795Abnormally straight spine
HP:0100797Toenail dysplasia
http://purl.obolibrary.org/obo/CHEBI_78804Caenorhabditis elegans metabolite
HP:0100796Orchitis
HP:0100798Fingernail dysplasia
http://purl.obolibrary.org/obo/CHEBI_78803nematode metabolite
HP:0100780Conjunctival hamartoma
HP:0100784Peripheral arteriovenous fistula
HP:0100783Breast aplasia
HP:0100788Fused lips
HP:0100789Torus palatinus
HP:0100770Hyperperistalsis
HP:0100773Cartilage destruction
HP:0100775Dural ectasia
HP:0100776Recurrent pharyngitis
HP:0100779Urogenital sinus anomaly
HP:0100778Cryoglobulinemia
HP:0100760Clubbing of toes
HP:0100762Hemobilia
HP:0100761Visceral angiomatosis
HP:0100768Choriocarcinoma
http://purl.obolibrary.org/obo/CHEBI_17855triglyceride
HP:0100769Synovitis
http://purl.obolibrary.org/obo/CHEBI_17859glutaric acid
HP:0100750Atelectasis
HP:0100753Schizophrenia
HP:0100752Abnormal liver lobulation
HP:0100757Pancreatoblastoma
http://purl.obolibrary.org/obo/CHEBI_17823calcitriol
HP:0100759Clubbing of fingers
HP:0100758Gangrene
http://purl.obolibrary.org/obo/CHEBI_30807tetradecanoate
HP:0100746Macrodactyly of finger
HP:0100748Muscular edema
HP:0100747Macrodactyly of toe
http://purl.obolibrary.org/obo/GO_0032989cellular component morphogenesis
http://purl.obolibrary.org/obo/GO_0030323respiratory tube development
http://purl.obolibrary.org/obo/GO_0030324lung development
HP:0004906Hypernatremic dehydration
HP:0004909Hypokalemic hypochloremic metabolic alkalosis
HP:0004902Congenital lactic acidosis
HP:0004904Maturity-onset diabetes of the young
HP:0004905Low levels of vitamin A
http://purl.obolibrary.org/obo/UBERON_4300226forelimb bud mesenchyme
http://purl.obolibrary.org/obo/UBERON_4300227hindlimb bud mesenchyme
HP:0004900Severe lactic acidosis
HP:0004901Exercise-induced lactic acidemia
http://www.informatics.jax.org/marker/MGI:2384966Mgat2 (mouse)
http://purl.obolibrary.org/obo/CL_0002359placental hematopoietic stem cell
http://purl.obolibrary.org/obo/CHEBI_88188drug allergen
http://purl.obolibrary.org/obo/CL_0002364cortical thymic epithelial cell
http://purl.obolibrary.org/obo/CL_0002365medullary thymic epithelial cell
HP:0004955Generalized arterial tortuosity
http://purl.obolibrary.org/obo/CL_0002363keratocyte
http://purl.obolibrary.org/obo/GO_0019953sexual reproduction
HP:0004952Pulmonary arteriovenous fistulas
HP:0004968Recurrent cerebral hemorrhage
HP:0002307Drooling
HP:0004969Peripheral pulmonary artery stenosis
http://purl.obolibrary.org/obo/GO_0042373vitamin K metabolic process
http://purl.obolibrary.org/obo/CL_0002344CD56-negative, CD161-positive immature natural killer cell
http://purl.obolibrary.org/obo/CHEBI_30794malonic acid
http://purl.obolibrary.org/obo/CHEBI_30795malonate(1-)
http://purl.obolibrary.org/obo/CL_0002353fetal liver hematopoietic progenitor cell
HP:0004964Pulmonary arterial medial hypertrophy
http://purl.obolibrary.org/obo/CL_0002354yolk sac hematopoietic stem cell
HP:0002305Athetosis
HP:0004966Medial calcification of large arteries
http://purl.obolibrary.org/obo/CL_0002351progenitor cell of endocrine pancreas
HP:0002304Akinesia
HP:0002374Diminished movement
HP:0004960Absent pulmonary artery
http://purl.obolibrary.org/obo/CL_0002350endocardial cell
HP:0004961Pulmonary artery sling
HP:0002300Mutism
http://purl.obolibrary.org/obo/CHEBI_391504-oxopentanoate
http://purl.obolibrary.org/obo/GO_2001025positive regulation of response to drug
http://purl.obolibrary.org/obo/CL_0002377immature Schwann cell
http://purl.obolibrary.org/obo/GO_2001024negative regulation of response to drug
http://purl.obolibrary.org/obo/GO_2001023regulation of response to drug
http://purl.obolibrary.org/obo/GO_0042360vitamin E metabolic process
HP:0004975Erlenmeyer flask deformity of the femurs
HP:0002314Degeneration of the lateral corticospinal tracts
HP:0004977Bilateral radial aplasia
HP:0002310Orofacial dyskinesia
HP:0004971Pulmonary artery hypoplasia
HP:0004972Elevated mean arterial pressure
http://purl.obolibrary.org/obo/GO_0042359vitamin D metabolic process
HP:0002312Clumsiness
HP:0004974Coarctation of abdominal aorta
HP:0002329Drowsiness
http://purl.obolibrary.org/obo/CL_0002367trabecular meshwork cell
HP:0004980Metaphyseal rarefaction
HP:0004981Prominent styloid process of ulna
http://purl.obolibrary.org/obo/CL_0002375Schwann cell precursor
HP:0004987Mesomelic leg shortening
HP:0002324Hydranencephaly
HP:0002326Transient ischemic attack
HP:0004918Hyperchloremic metabolic acidosis
HP:0004919Galactose intolerance
HP:0004913Intermittent lactic acidemia
HP:0004914Recurrent infantile hypoglycemia
HP:0004915Impairment of galactose metabolism
HP:0004916Generalized distal tubular acidosis
HP:0004910Bicarbonate-wasting renal tubular acidosis
HP:0004911Episodic metabolic acidosis
HP:0004912Hypophosphatemic rickets
HP:0004924Abnormal oral glucose tolerance
HP:0004925Chronic lactic acidosis
HP:0004926Orthostatic hypotension due to autonomic dysfunction
HP:0004920Phenylpyruvic acidemia
http://purl.obolibrary.org/obo/GO_0042322negative regulation of circadian sleep/wake cycle, REM sleep
http://purl.obolibrary.org/obo/GO_0042321negative regulation of circadian sleep/wake cycle, sleep
HP:0004922Atypical hyperphenylalaninemia
HP:0004923Hyperphenylalaninemia
http://purl.obolibrary.org/obo/GO_0030307positive regulation of cell growth
HP:0004935Pulmonary artery atresia
http://purl.obolibrary.org/obo/GO_0030308negative regulation of cell growth
HP:0004937Pulmonary artery aneurysm
HP:0004927Pulmonary artery dilatation
HP:0004938Tortuous cerebral arteries
HP:0004931Arteriosclerosis of small cerebral arteries
HP:0004933Ascending aortic dissection
http://purl.obolibrary.org/obo/GO_0030316osteoclast differentiation
http://purl.obolibrary.org/obo/GO_0030317flagellated sperm motility
http://purl.obolibrary.org/obo/MPATH_675psoriasiform dermatitis
HP:0004943Accelerated atherosclerosis
HP:0004945Extracranial internal carotid artery dissection
HP:0004940Generalized arterial calcification
HP:0004941Extrahepatic portal hypertension
http://purl.obolibrary.org/obo/UBERON_0005469right thymus lobe
http://purl.obolibrary.org/obo/CL_0002631epithelial cell of upper respiratory tract
HP:0100850Neoplasm of the penis
HP:0100853Hypoplastic areola
HP:0100855Triceps hypoplasia
HP:0100858Dilatation of celiac artery
HP:0002494Abnormal rapid eye movement sleep
HP:0100857Flat sella turcica
HP:0100859Dilatation of superior mesenteric artery
HP:0002491Spasticity of facial muscles
HP:0002490Increased CSF lactate
http://purl.obolibrary.org/obo/UBERON_0005467platysma
http://purl.obolibrary.org/obo/UBERON_0005465obturator nerve
http://purl.obolibrary.org/obo/UBERON_0005463subcapsular sinus of lymph node
HP:0002497Spastic ataxia
http://purl.obolibrary.org/obo/UBERON_0005462lower back
http://purl.obolibrary.org/obo/UBERON_0005461levator scapulae muscle
http://purl.obolibrary.org/obo/UBERON_0005460left vitelline vein
http://purl.obolibrary.org/obo/CL_0002623acinar cell of salivary gland
http://purl.obolibrary.org/obo/CL_1001596salivary gland glandular cell
http://purl.obolibrary.org/obo/CL_0002621gingival epithelial cell
HP:0100841Microgastria
HP:0100842Septo-optic dysplasia
HP:0100844Pancreatic fistula
HP:0100847Palmoplantar pustulosis
HP:0100849Neoplasm of the scrotum
http://purl.obolibrary.org/obo/UBERON_0005475sigmoid sinus
http://purl.obolibrary.org/obo/UBERON_0005473sacral region
http://purl.obolibrary.org/obo/UBERON_0005472right vitelline vein
http://purl.obolibrary.org/obo/CL_0002658glandular cell of the large intestine
http://purl.obolibrary.org/obo/CL_0002656glandular cell of endometrium
http://purl.obolibrary.org/obo/CL_1001591oviduct glandular cell
http://purl.obolibrary.org/obo/CL_0002657glandular cell of esophagus
HP:0100830Round ear
http://purl.obolibrary.org/obo/GO_0005730nucleolus
HP:0100838Recurrent cutaneous abscess formation
http://purl.obolibrary.org/obo/CHEBI_27570histidine
HP:0100837Atrophodermia vermiculata
HP:0100839Hepatic agenesis
http://purl.obolibrary.org/obo/UBERON_0005487vitelline vein
HP:0100821Urethrocele
HP:0100820Glomerulopathy
http://purl.obolibrary.org/obo/GO_0005720nuclear heterochromatin
http://purl.obolibrary.org/obo/UBERON_0005491glossopharyngeal neural crest
HP:0100822Rectocele
HP:0100672Vaginal hernia
HP:0100829Galactorrhea
HP:0100828Increased T cell count
http://purl.obolibrary.org/obo/UBERON_0005499rhombomere 1
http://purl.obolibrary.org/obo/GO_0005719nuclear euchromatin
http://purl.obolibrary.org/obo/UBERON_0005498primitive heart tube
http://purl.obolibrary.org/obo/UBERON_0005496neural tube lateral wall
http://purl.obolibrary.org/obo/CL_0000018spermatid
http://purl.obolibrary.org/obo/UBERON_0005428vagal neural crest
http://purl.obolibrary.org/obo/CL_0002676neural crest derived neuroblast
http://purl.obolibrary.org/obo/UBERON_0005427corneal primordium
http://purl.obolibrary.org/obo/UBERON_0005426lens vesicle
http://purl.obolibrary.org/obo/CL_0000014germ line stem cell
http://purl.obolibrary.org/obo/UBERON_0005425presumptive neural retina
http://purl.obolibrary.org/obo/UBERON_0005424presumptive retinal pigmented epithelium
HP:0100810Pointed helix
http://purl.obolibrary.org/obo/GO_0005753mitochondrial proton-transporting ATP synthase complex
HP:0100814Blue nevus
http://purl.obolibrary.org/obo/GO_0005746mitochondrial respirasome
HP:0100813Testicular torsion
HP:0100816Lip hyperpigmentation
HP:0100818Long thorax
HP:0100817Renovascular hypertension
http://purl.obolibrary.org/obo/CHEBI_27594carbon atom
http://purl.obolibrary.org/obo/UBERON_0005422pelvic appendage apical ectodermal ridge
http://purl.obolibrary.org/obo/UBERON_0005421pectoral appendage apical ectodermal ridge
http://purl.obolibrary.org/obo/CL_0000020spermatogonium
HP:0002454Eye of the tiger anomaly of globus pallidus
http://purl.obolibrary.org/obo/CL_0000008migratory cranial neural crest cell
http://purl.obolibrary.org/obo/CL_0000005fibroblast neural crest derived
http://purl.obolibrary.org/obo/UBERON_0005438coronary sinus
http://purl.obolibrary.org/obo/GO_0005740mitochondrial envelope
http://purl.obolibrary.org/obo/GO_0005743mitochondrial inner membrane
HP:0100801Pancreatic aplasia
HP:0002461Dense calcifications in the cerebellar dentate nucleus
HP:0100802Malposition of the stomach
HP:0100804Ungual fibroma
HP:0100826Neoplasm of the nail
http://purl.obolibrary.org/obo/CHEBI_27584aldosterone
http://purl.obolibrary.org/obo/GO_0005739mitochondrion
HP:0100809Scalp tenderness
HP:0100808Gastric diverticulum
http://purl.obolibrary.org/obo/CL_0002673tongue muscle cell
http://purl.obolibrary.org/obo/UBERON_0005432aortic sac
http://purl.obolibrary.org/obo/UBERON_0005430ansa cervicalis
HP:0002464Spastic dysarthria
HP:0002465Poor speech
http://purl.obolibrary.org/obo/CL_0000035single fate stem cell
http://purl.obolibrary.org/obo/UBERON_0005446foramen rotundum
http://purl.obolibrary.org/obo/GO_0005775vacuolar lumen
HP:0002470Nonprogressive cerebellar ataxia
http://purl.obolibrary.org/obo/UBERON_0005442abdominal external oblique muscle
http://purl.obolibrary.org/obo/CL_0000040monoblast
http://purl.obolibrary.org/obo/UBERON_0005440ductus arteriosus
http://purl.obolibrary.org/obo/UBERON_0005457left thymus lobe
http://purl.obolibrary.org/obo/UBERON_0005483thymus lobe
http://purl.obolibrary.org/obo/GO_0005761mitochondrial ribosome
HP:0002483Bulbar signs
http://purl.obolibrary.org/obo/GO_0005759mitochondrial matrix
http://purl.obolibrary.org/obo/UBERON_0005456jugular foramen
http://purl.obolibrary.org/obo/UBERON_0005454abdominal internal oblique muscle
HP:0002487Hyperkinetic movements
http://purl.obolibrary.org/obo/UBERON_0005409alimentary part of gastrointestinal system
http://purl.obolibrary.org/obo/UBERON_0005407sublingual ganglion
http://purl.obolibrary.org/obo/UBERON_0005404frontonasal suture
http://purl.obolibrary.org/obo/UBERON_0005403ventral striatum
http://purl.obolibrary.org/obo/UBERON_0005402philtrum
http://purl.obolibrary.org/obo/UBERON_0005400telencephalon arachnoid mater
http://purl.obolibrary.org/obo/UBERON_0005418hindlimb bud
http://purl.obolibrary.org/obo/UBERON_0005420pelvic appendage bud
http://purl.obolibrary.org/obo/UBERON_0005417forelimb bud
http://purl.obolibrary.org/obo/UBERON_0005419pectoral appendage bud
http://purl.obolibrary.org/obo/UBERON_0005413spinocerebellar tract
http://purl.obolibrary.org/obo/UBERON_0005412optic fissure
http://purl.obolibrary.org/obo/UBERON_0005411bony otic capsule
http://purl.obolibrary.org/obo/UBERON_0005410cartilaginous otic capsule
HP:0100890Cyst of the ductus choledochus
HP:0100891Bifid xiphoid process
HP:0100894Broad xiphoid process
HP:0100893Prominent xiphoid process
HP:0100892Abnormality of the xiphoid process
HP:0100896Rectal polyposis
HP:0100881Congenital mesoblastic nephroma
HP:0100883Chorangioma
HP:0100882Fibrous hamartoma
HP:0100885Lateral venous anomaly
HP:0100884Compensatory scoliosis
HP:0100889Abnormality of the ductus choledochus
HP:0100888Interdigital loops
http://purl.obolibrary.org/obo/CHEBI_15551prostaglandin E2
http://purl.obolibrary.org/obo/CL_0002614neuron of the substantia nigra
http://purl.obolibrary.org/obo/CL_0002612neuron of the ventral spinal cord
http://purl.obolibrary.org/obo/CL_0002613striatum neuron
http://purl.obolibrary.org/obo/CL_0002610raphe nuclei neuron
HP:0100870Plantar telangiectasia
HP:0100874Thick hair
HP:0100876Infra-orbital crease
HP:0100875Hemimacroglossia
HP:0100878Enlarged uterus
HP:0100877Renal diverticulum
http://purl.obolibrary.org/obo/CL_0002603astrocyte of the cerebellum
http://purl.obolibrary.org/obo/CL_0002604astrocyte of the hippocampus
http://purl.obolibrary.org/obo/CL_1001580hippocampus glial cell
http://purl.obolibrary.org/obo/CL_0002602annulus pulposus cell
HP:0100861Sclerotic vertebral body
HP:0100860Dilatation of Inferior mesenteric artery
http://purl.obolibrary.org/obo/CL_0002607migratory enteric neural crest cell
HP:0100863Aplasia of the femoral neck
http://purl.obolibrary.org/obo/CL_0002608hippocampal neuron
http://purl.obolibrary.org/obo/CL_0002609neuron of cerebral cortex
http://purl.obolibrary.org/obo/CL_0012001neuron of the forebrain
HP:0100862Aplasia of the femoral head
http://purl.obolibrary.org/obo/CL_0002605astrocyte of the cerebral cortex
http://purl.obolibrary.org/obo/CL_0012000astrocyte of the forebrain
http://purl.obolibrary.org/obo/CL_1001579cerebral cortex glial cell
HP:0100865Broad ischia
HP:0100864Short femoral neck
http://purl.obolibrary.org/obo/CL_0002606astrocyte of the spinal cord
HP:0100867Duodenal stenosis
HP:0100866Short iliac bones
HP:0100869Palmar telangiectasia
http://purl.obolibrary.org/obo/PR_P08508low affinity immunoglobulin gamma Fc region receptor III (mouse)
http://purl.obolibrary.org/obo/GO_0042645mitochondrial nucleoid
http://purl.obolibrary.org/obo/GO_0042632cholesterol homeostasis
http://purl.obolibrary.org/obo/GO_0042627chylomicron
http://purl.obolibrary.org/obo/GO_0042613MHC class II protein complex
http://purl.obolibrary.org/obo/GO_0042611MHC protein complex
http://purl.obolibrary.org/obo/CHEBI_76413greenhouse gas
HP:0002416Subependymal cysts
HP:0002419Molar tooth sign on MRI
http://purl.obolibrary.org/obo/GO_0003010voluntary skeletal muscle contraction
http://purl.obolibrary.org/obo/PR_P08571monocyte differentiation antigen CD14 (human)
http://purl.obolibrary.org/obo/GO_0003009skeletal muscle contraction
HP:0002410Aqueductal stenosis
http://purl.obolibrary.org/obo/CL_0000047neuronal stem cell
HP:0002427Motor aphasia
HP:0002381Aphasia
HP:0002423Long-tract signs
HP:0002425Anarthria
HP:0002421Poor head control
HP:0002439Frontolimbic dementia
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5147HPD (human)
http://purl.obolibrary.org/obo/GO_0003016respiratory system process
HP:0002446Astrocytosis
HP:0002448Progressive encephalopathy
HP:0002442Dyscalculia
HP:0002444Hypothalamic hamartoma
http://purl.obolibrary.org/obo/UBERON_0005382dorsal striatum
http://purl.obolibrary.org/obo/UBERON_0005381dentate gyrus granule cell layer
http://purl.obolibrary.org/obo/GO_0042695thelarche
http://purl.obolibrary.org/obo/GO_0042696menarche
http://purl.obolibrary.org/obo/UBERON_0005384nasal cavity epithelium
http://purl.obolibrary.org/obo/UBERON_0005383caudate-putamen
http://purl.obolibrary.org/obo/UBERON_0005397brain arachnoid mater
http://purl.obolibrary.org/obo/GO_0040019positive regulation of embryonic development
HP:0002408Cerebral arteriovenous malformation
HP:0002401Stroke-like episode
HP:0002404Thickened superior cerebellar peduncle
HP:0002403Positive Romberg sign
http://purl.obolibrary.org/obo/UBERON_0005343cortical plate
HP:0100960Asymmetric ventricles
HP:0100962Shyness
HP:0100961Enlarged hippocampus
HP:0100963Hyperesthesia
http://purl.obolibrary.org/obo/UBERON_0005352spermatic cord
http://purl.obolibrary.org/obo/PR_P47989xanthine dehydrogenase/oxidase (human)
http://purl.obolibrary.org/obo/CL_0002537amnion mesenchymal stem cell
http://purl.obolibrary.org/obo/CL_0002538intrahepatic bile duct epithelial cell
http://purl.obolibrary.org/obo/CL_0002535epithelial cell of cervix
http://purl.obolibrary.org/obo/CL_0002536epithelial cell of amnion
HP:0100951Enlarged fossa interpeduncularis
HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level
HP:0100953Enlarged interhemispheric fissure
HP:0100952Enlarged sylvian cistern
HP:0100955Giant cell granuloma of mandible
HP:0100954Open operculum
http://purl.obolibrary.org/obo/GO_0005604basement membrane
HP:0100959Dense metaphyseal bands
HP:0100958Narrow foramen obturatorium
http://purl.obolibrary.org/obo/CL_0002541chorionic membrane mesenchymal stem cell
http://purl.obolibrary.org/obo/UBERON_0005366olfactory lobe
http://purl.obolibrary.org/obo/GO_1905083negative regulation of mitochondrial translational elongation
http://purl.obolibrary.org/obo/UBERON_0005363inferior vagus X ganglion
http://purl.obolibrary.org/obo/GO_1905084positive regulation of mitochondrial translational elongation
http://purl.obolibrary.org/obo/GO_1905082regulation of mitochondrial translational elongation
http://purl.obolibrary.org/obo/UBERON_0005362vagus X ganglion
http://purl.obolibrary.org/obo/UBERON_0005375spinal cord ventral column
http://purl.obolibrary.org/obo/UBERON_0005373spinal cord dorsal column
http://purl.obolibrary.org/obo/CL_0002559hair follicle cell
http://purl.obolibrary.org/obo/UBERON_0005309pronephric nephron
http://purl.obolibrary.org/obo/CL_0002557fibroblast of pulmonary artery
http://purl.obolibrary.org/obo/CL_0002555fibroblast of mammary gland
http://purl.obolibrary.org/obo/CL_0002554fibroblast of lymphatic vessel
HP:0002570Steatorrhea
http://purl.obolibrary.org/obo/CHEBI_27470folic acid
HP:0002572Episodic vomiting
HP:0002571Achalasia
HP:0002578Gastroparesis
HP:0002574Episodic abdominal pain
HP:0002573Hematochezia
HP:0002576Intussusception
HP:0002575Tracheo-oesophageal fistula
http://purl.obolibrary.org/obo/CL_0002549fibroblast of choroid plexus
http://purl.obolibrary.org/obo/UBERON_0005319mesonephric collecting duct
http://purl.obolibrary.org/obo/CL_0002546embryonic blood vessel endothelial progenitor cell
http://purl.obolibrary.org/obo/CL_0002547fibroblast of the aortic adventitia
http://purl.obolibrary.org/obo/UBERON_0005317pulmonary artery endothelium
http://purl.obolibrary.org/obo/UBERON_0005316endocardial endothelium
http://purl.obolibrary.org/obo/CHEBI_52425EC 3.2.1.18 (exo-alpha-sialidase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_52424EC 3.2.1.* (glycosidase) inhibitor
http://purl.obolibrary.org/obo/GO_0005622intracellular
HP:0002580Volvulus
http://purl.obolibrary.org/obo/GO_0005615extracellular space
HP:0100923Clavicular sclerosis
HP:0002582Chronic atrophic gastritis
http://purl.obolibrary.org/obo/CL_0002551fibroblast of dermis
http://purl.obolibrary.org/obo/CL_0002552fibroblast of gingiva
HP:0002588Duodenal ulcer
http://purl.obolibrary.org/obo/UBERON_0005311mammary placode
http://purl.obolibrary.org/obo/UBERON_0005310pronephric nephron tubule
http://purl.obolibrary.org/obo/CL_0002550fibroblast of the conjunctiva
HP:0002587Projectile vomiting
http://purl.obolibrary.org/obo/UBERON_0005328mesonephric comma-shaped body
http://purl.obolibrary.org/obo/UBERON_0005327mesonephric glomerular epithelium
http://purl.obolibrary.org/obo/UBERON_0005326mesonephric glomerulus vasculature
http://purl.obolibrary.org/obo/UBERON_0005325mesonephric glomerulus
HP:0002592Gastric ulcer
HP:0002591Polyphagia
HP:0002594Pancreatic hypoplasia
HP:0100800Aplasia/Hypoplasia of the pancreas
HP:0002593Intestinal lymphangiectasia
HP:0002590Paralytic ileus
HP:0002599Head titubation
http://purl.obolibrary.org/obo/UBERON_0005323mesonephric mesenchyme
http://purl.obolibrary.org/obo/CL_0002585retinal blood vessel endothelial cell
http://purl.obolibrary.org/obo/UBERON_0005322mesonephric nephron
http://purl.obolibrary.org/obo/UBERON_0005321mesonephric smooth muscle tissue
http://purl.obolibrary.org/obo/CL_0002569mesenchymal stem cell of umbilical cord
http://purl.obolibrary.org/obo/UBERON_0005339outflow tract pulmonary component
http://purl.obolibrary.org/obo/UBERON_0005338outflow tract aortic component
http://purl.obolibrary.org/obo/GO_1905038regulation of membrane lipid metabolic process
http://purl.obolibrary.org/obo/CL_0002564nucleus pulposus cell of intervertebral disc
http://purl.obolibrary.org/obo/UBERON_0005334oral lamina propria
http://purl.obolibrary.org/obo/UBERON_0007997sesamoid bone of manus
http://purl.obolibrary.org/obo/UBERON_0005333mammary bud
http://purl.obolibrary.org/obo/CL_0002571hepatic mesenchymal stem cell
http://purl.obolibrary.org/obo/UBERON_0005332mesonephric S-shaped body
http://purl.obolibrary.org/obo/CL_0002572vertebral mesenchymal stem cell
http://purl.obolibrary.org/obo/UBERON_0005331mesonephric renal vesicle
http://purl.obolibrary.org/obo/UBERON_0005330mesonephric nephron epithelium
http://purl.obolibrary.org/obo/CHEBI_15428glycine
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17291TMED1 (human)
http://purl.obolibrary.org/obo/CHEBI_64390N-hexanoylglycine
http://purl.obolibrary.org/obo/PATO_0045004normal affinity
http://purl.obolibrary.org/obo/PATO_0045009normal coiling
http://purl.obolibrary.org/obo/PATO_0045008normal cellular motility
http://purl.obolibrary.org/obo/PATO_0045007normal behavioural activity
http://purl.obolibrary.org/obo/PATO_0045088normal sensitivity of a process
http://purl.obolibrary.org/obo/PATO_0045087normal frequency
http://purl.obolibrary.org/obo/PATO_0045000normal rate
HP:0002533Abnormal posturing
HP:0002530Axial dystonia
HP:0002549Deficit in phonologic short-term memory
HP:0002548Parkinsonism with favorable response to dopaminergic medication
http://purl.obolibrary.org/obo/CL_0002586retinal pigment epithelial cell
http://purl.obolibrary.org/obo/CHEBI_273893-aminoisobutyric acid
http://purl.obolibrary.org/obo/PATO_0045086normal occurrence
http://purl.obolibrary.org/obo/PATO_0045084normal duration
http://purl.obolibrary.org/obo/PATO_0045083normal wetness
http://purl.obolibrary.org/obo/PATO_0045077normal variability of size
HP:0002545Patchy demyelination of subcortical white matter
HP:0002544Retrocollis
HP:0002546Incomprehensible speech
HP:0002542Olivopontocerebellar atrophy
http://purl.obolibrary.org/obo/PATO_0045071normal tonicity
http://purl.obolibrary.org/obo/PR_P08473neprilysin (human)
http://purl.obolibrary.org/obo/GO_0005576extracellular region
http://purl.obolibrary.org/obo/PATO_0045073normal process quality
http://purl.obolibrary.org/obo/PATO_0045068normal tendency
http://purl.obolibrary.org/obo/PATO_0045066normal susceptibility toward
http://purl.obolibrary.org/obo/PATO_0045065normal fatigability
HP:0002555Absent pubic hair
HP:0002558Supernumerary nipple
http://purl.obolibrary.org/obo/CHEBI_66998histidinate derivative
HP:0002557Hypoplastic nipples
HP:0002552Trichodysplasia
HP:0002553Highly arched eyebrow
http://purl.obolibrary.org/obo/GO_0042593glucose homeostasis
http://purl.obolibrary.org/obo/PATO_0045060normal volume
http://purl.obolibrary.org/obo/PATO_0045064normal strength
http://purl.obolibrary.org/obo/PATO_0045061normal width
http://purl.obolibrary.org/obo/PATO_0045056normal anterior-posterior diameter
HP:0002561Absent nipple
http://purl.obolibrary.org/obo/PATO_0045055normal diameter
http://purl.obolibrary.org/obo/PATO_0045059normal thickness
http://purl.obolibrary.org/obo/PATO_0045058normal circumference
http://purl.obolibrary.org/obo/PATO_0045057normal perimeter
http://purl.obolibrary.org/obo/PATO_0045054normal length
HP:0002563Constrictive pericarditis
http://purl.obolibrary.org/obo/GO_0042589zymogen granule membrane
http://purl.obolibrary.org/obo/GO_0030667secretory granule membrane
http://purl.obolibrary.org/obo/GO_0030659cytoplasmic vesicle membrane
HP:0002562Low-set nipples
http://purl.obolibrary.org/obo/GO_0042588zymogen granule
http://purl.obolibrary.org/obo/GO_0042582azurophil granule
http://purl.obolibrary.org/obo/GO_0005766primary lysosome
http://purl.obolibrary.org/obo/GO_0005764lysosome
http://purl.obolibrary.org/obo/PATO_0045053normal height
http://purl.obolibrary.org/obo/PATO_0045052normal depth
http://purl.obolibrary.org/obo/PATO_0045050normal size
http://purl.obolibrary.org/obo/PATO_0045044normal pressure
http://purl.obolibrary.org/obo/PATO_0045049normal sensitivity toward
http://purl.obolibrary.org/obo/UBERON_0005269renal cortex vein
http://purl.obolibrary.org/obo/UBERON_0005268renal cortex artery
HP:0002508Brainstem dysplasia
HP:0002504Calcification of the small brain vessels
HP:0002507Semilobar holoprosencephaly
HP:0002506Diffuse cerebral atrophy
http://purl.obolibrary.org/obo/PATO_0045041normal angle to
http://purl.obolibrary.org/obo/PATO_0045040normal position
http://purl.obolibrary.org/obo/PATO_0045032normal mobility
http://purl.obolibrary.org/obo/PATO_0045038normal photosensitivity
HP:0002501Spasticity of pharyngeal muscles
http://purl.obolibrary.org/obo/UBERON_0005279nail bed of toe
http://purl.obolibrary.org/obo/UBERON_0005278nail bed of finger
http://purl.obolibrary.org/obo/UBERON_0005277dorsal skin of toe
http://purl.obolibrary.org/obo/UBERON_0030276lumbar spinal cord ventral horn
http://purl.obolibrary.org/obo/UBERON_0005276dorsal skin of finger
http://purl.obolibrary.org/obo/UBERON_0005273nail bed
http://purl.obolibrary.org/obo/UBERON_0005275dorsal skin of digit
HP:0002519Hypnagogic hallucinations
HP:0002516Increased intracranial pressure
HP:0002515Waddling gait
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7656NCAM1 (human)
http://purl.obolibrary.org/obo/PATO_0045031normal mass density
http://purl.obolibrary.org/obo/PATO_0045030normal mass
http://purl.obolibrary.org/obo/UBERON_0017261intertarsal sesamoid
http://purl.obolibrary.org/obo/PATO_0045024normal force
http://purl.obolibrary.org/obo/UBERON_0005282ventricular system of brain
http://purl.obolibrary.org/obo/UBERON_0005281ventricular system of central nervous system
http://purl.obolibrary.org/obo/PATO_0045021normal flexibility
http://purl.obolibrary.org/obo/PATO_0045028normal male fertility
http://purl.obolibrary.org/obo/PATO_0045026normal life span
http://purl.obolibrary.org/obo/CHEBI_138103inorganic acid
http://purl.obolibrary.org/obo/PATO_0045025normal fragility
HP:0002512Brain stem compression
HP:0002511Alzheimer disease
http://purl.obolibrary.org/obo/UBERON_0005289tela choroidea of telencephalic ventricle
http://purl.obolibrary.org/obo/UBERON_0005288tela choroidea of third ventricle
http://purl.obolibrary.org/obo/UBERON_0005287tela choroidea of fourth ventricle
http://purl.obolibrary.org/obo/UBERON_0005286tela choroidea of midbrain cerebral aqueduct
http://purl.obolibrary.org/obo/UBERON_0005283tela choroidea
HP:0002510Spastic tetraplegia
HP:0002527Falls
HP:0002526Deficit in nonword repetition
HP:0002528Granulovacuolar degeneration
http://purl.obolibrary.org/obo/PATO_0045020normal fertility
http://purl.obolibrary.org/obo/UBERON_0017271upper primary premolar tooth
http://purl.obolibrary.org/obo/UBERON_0017272lower primary premolar tooth
http://purl.obolibrary.org/obo/UBERON_0017269primary premolar tooth
http://purl.obolibrary.org/obo/UBERON_0005294gonadal ridge
http://purl.obolibrary.org/obo/PATO_0045013normal curvature
http://purl.obolibrary.org/obo/PATO_0045012normal coordination
http://purl.obolibrary.org/obo/PATO_0045010normal concentration
http://purl.obolibrary.org/obo/UBERON_0005290myelencephalon
http://purl.obolibrary.org/obo/PATO_0045016normal elasticity
http://purl.obolibrary.org/obo/UBERON_0005299prepuce of clitoris
HP:0002524Cataplexy
http://purl.obolibrary.org/obo/PATO_0045018normal female fertility
http://purl.obolibrary.org/obo/PATO_0045001normal object quality
http://purl.obolibrary.org/obo/UBERON_0005297testis sex cord
http://purl.obolibrary.org/obo/UBERON_0005296ovary sex cord
HP:0002521Hypsarrhythmia
HP:0012054Choroidal melanoma
HP:0012053Low serum calcifediol
HP:0012052Low serum calcitriol
HP:0012051Reactive hypoglycemia
HP:0012050Anasarca
http://purl.obolibrary.org/obo/UBERON_0005229lower leg epithelium
http://purl.obolibrary.org/obo/UBERON_0005228upper arm epithelium
HP:0012059Lentigo maligna melanoma
HP:0012058Nodular melanoma
HP:0012057Superficial spreading melanoma
HP:0012055Ciliary body melanoma
HP:0000074Ureteropelvic junction obstruction
HP:0000072Hydroureter
HP:0000070Ureterocele
http://purl.obolibrary.org/obo/UBERON_0005225upper leg epithelium
http://purl.obolibrary.org/obo/UBERON_0005222liver left lobe parenchyma
http://purl.obolibrary.org/obo/UBERON_0005221liver right lobe parenchyma
HP:0000076Vesicoureteral reflux
HP:0012065Multiple bony cystic lesions
HP:0012064Unicameral bone cyst
HP:0012063Aneurysmal bone cyst
HP:0012061Urinary excretion of sialylated oligosaccharides
HP:0012060Acral lentiginous melanoma
HP:0012056Cutaneous melanoma
http://purl.obolibrary.org/obo/UBERON_0005239basal plate metencephalon
HP:0012069Keratan sulfate excretion in urine
HP:0012068Aspartylglucosaminuria
HP:0012066Increased urinary disaccharide excretion
HP:0000085Horseshoe kidney
http://purl.obolibrary.org/obo/CHEBI_27780detergent
HP:0000081Duplicated collecting system
http://purl.obolibrary.org/obo/UBERON_0005236osseus labyrinth vestibule
http://purl.obolibrary.org/obo/UBERON_0005234optic eminence ectoderm
http://purl.obolibrary.org/obo/UBERON_0005233medial-nasal process ectoderm
HP:0012076Borderline personality disorder
HP:0012074Tonic pupil
HP:0012070Chondroitin sulfate excretion in urine
http://purl.obolibrary.org/obo/UBERON_0005249metanephric renal pelvis
http://purl.obolibrary.org/obo/UBERON_0005248bulbus cordis myocardium
HP:0012079Abnormality of central motor conduction
HP:0012078Motor conduction block
HP:0012077Histrionic personality disorder
HP:0012075Personality disorder
HP:0000097Focal segmental glomerulosclerosis
HP:0000090Nephronophthisis
http://purl.obolibrary.org/obo/UBERON_0005243interventricular septum endocardium
HP:0012083Ubiquitin-positive cerebral inclusion bodies
HP:0012082Cerebellar Purkinje layer atrophy
HP:0012081Enlarged cerebellum
HP:0012080Cerebellar granular layer atrophy
http://purl.obolibrary.org/obo/CHEBI_25147mandelate
HP:0012088Abnormal urinary odor
http://purl.obolibrary.org/obo/UBERON_0005250stomatodeum gland
http://purl.obolibrary.org/obo/UBERON_0005251yolk sac cavity
HP:0012010EEG with frontal focal spike waves
HP:0012018EEG with temporal focal spikes
HP:0012017EEG with parietal focal spikes
http://purl.obolibrary.org/obo/CHEBI_50113androgen
HP:0012016EEG with occipital focal spikes
HP:0012015EEG with frontal focal spikes
HP:0012014EEG with central focal spikes
HP:0012013EEG with temporal focal spike waves
HP:0012012EEG with parietal focal spike waves
http://purl.obolibrary.org/obo/CHEBI_50114estrogen
HP:0012011EEG with occipital focal spike waves
HP:0002691Platybasia
HP:0000030Testicular gonadoblastoma
HP:0002690Large sella turcica
HP:0000031Epididymitis
HP:0012019Lens luxation
HP:0000039Epispadias
HP:0002695Symmetrical, oval parietal bone defects
HP:0000034Hydrocele testis
HP:0002697Parietal foramina
HP:0000033Ambiguous genitalia, male
HP:0012021Persistent patent ductus venosus
HP:0012028Hepatocellular adenoma
HP:0012027Laryngeal edema
HP:0012026Hyperornithinemia
HP:0012024Hypergalactosemia
HP:0012023Galactosuria
HP:0012022Congenital portosystemic venous shunt
http://purl.obolibrary.org/obo/GO_0005976polysaccharide metabolic process
HP:0000041Chordee
HP:0000042Absent external genitalia
HP:0000040Long penis
HP:0000049Shawl scrotum
HP:0000048Bifid scrotum
HP:0000046Scrotal hypoplasia
HP:0000044Hypogonadotropic hypogonadism
HP:0012030Increased urinary cortisol level
http://purl.obolibrary.org/obo/UBERON_0005207tonsil capsule
http://purl.obolibrary.org/obo/UBERON_0005205lamina propria of vagina
http://purl.obolibrary.org/obo/UBERON_0005204larynx submucosa gland
HP:0012039Descemet Membrane Folds
HP:0012038Corneal guttata
HP:0012037Pectoralis amyotrophy
HP:0012036Sternocleidomastoid amyotrophy
HP:0012035Steatocystoma multiplex
http://purl.obolibrary.org/obo/GO_0003353positive regulation of cilium movement
HP:0012033Sacral lipoma
http://purl.obolibrary.org/obo/GO_0003354negative regulation of cilium movement
HP:0000052Urethral atresia, male
HP:0000051Perineal hypospadias
http://purl.obolibrary.org/obo/UBERON_0005200thoracic mammary gland
HP:0000059Hypoplastic labia majora
HP:0000054Micropenis
HP:0012042Aspirin-induced asthma
HP:0012040Corneal stromal edema
http://purl.obolibrary.org/obo/UBERON_0005219hindbrain subarachnoid space
http://purl.obolibrary.org/obo/UBERON_0005218diencephalon subarachnoid space
http://purl.obolibrary.org/obo/UBERON_0005217midbrain subarachnoid space
http://purl.obolibrary.org/obo/UBERON_0005216optic eminence surface ectoderm
HP:0012049Laryngeal dystonia
HP:0012048Oromandibular dystonia
HP:0012047Hemeralopia
HP:0012046Areflexia of upper limbs
HP:0012044Seesaw nystagmus
HP:0000063Fused labia minora
HP:0000064Hypoplastic labia minora
HP:0000061Ambiguous genitalia, female
HP:0000060Clitoral hypoplasia
http://purl.obolibrary.org/obo/UBERON_0005214inner renal medulla interstitium
http://purl.obolibrary.org/obo/UBERON_0005212Leydig cell region of testis
HP:0000067Urethral atresia, female
HP:0000068Urethral atresia
HP:0000066Labial hypoplasia
http://purl.obolibrary.org/obo/UBERON_0007806connecting stalk
http://purl.obolibrary.org/obo/UBERON_0007807connecting stalk vasculature
http://purl.obolibrary.org/obo/CHEBI_76761EC 3.2.* (glycosylase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_15740formate
http://purl.obolibrary.org/obo/UBERON_0007811craniocervical region
http://purl.obolibrary.org/obo/UBERON_0007812post-anal tail
http://purl.obolibrary.org/obo/CHEBI_15756hexadecanoic acid
http://purl.obolibrary.org/obo/UBERON_0007827external nose
http://purl.obolibrary.org/obo/CHEBI_15727carnosine
http://purl.obolibrary.org/obo/UBERON_0007831pectoral girdle skeleton
http://www.informatics.jax.org/marker/MGI:109440Ly6g (mouse)
HP:0012098Edema of the dorsum of feet
HP:0012097Intracranial dermoid cyst
HP:0012096Intracranial epidermoid cyst
HP:0012095Multiple joint dislocation
http://purl.obolibrary.org/obo/CHEBI_15792malonate(2-)
http://purl.obolibrary.org/obo/CHEBI_25107magnesium atom
http://purl.obolibrary.org/obo/CHEBI_15778N-acyl-D-amino acid
http://purl.obolibrary.org/obo/CHEBI_39745dihydrogenphosphate
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7154MME (human)
http://purl.obolibrary.org/obo/CL_0002087nongranular leukocyte
HP:0002608Celiac disease
HP:0002604Gastrointestinal telangiectasia
http://purl.obolibrary.org/obo/UBERON_3010200vasculature of respiratory integument
HP:0002601Paresis of extensor muscles of the big toe
http://purl.obolibrary.org/obo/CL_0002097cortical cell of adrenal gland
http://purl.obolibrary.org/obo/CL_1001601adrenal gland glandular cell
http://purl.obolibrary.org/obo/MPATH_196dermatitis
http://purl.obolibrary.org/obo/MPATH_197glomerulonephritis
http://purl.obolibrary.org/obo/MPATH_198immune mediated hemolytic anaemia
http://purl.obolibrary.org/obo/MPATH_195arthritis
http://purl.obolibrary.org/obo/MPATH_181fibrosis
http://purl.obolibrary.org/obo/MPATH_184sclerosis
http://purl.obolibrary.org/obo/MPATH_176connective tissue replacement
http://purl.obolibrary.org/obo/MPATH_175healing and repair process
http://purl.obolibrary.org/obo/MPATH_156parakeratosis
http://purl.obolibrary.org/obo/UBERON_0017163skin bony tubercle
http://purl.obolibrary.org/obo/UBERON_0005184hair medulla
http://purl.obolibrary.org/obo/CHEBI_25094lysine
http://purl.obolibrary.org/obo/MPATH_154hyperkeratosis
http://purl.obolibrary.org/obo/MPATH_149squamous hyperplasia
http://purl.obolibrary.org/obo/MPATH_602hyperplastic tissue
http://purl.obolibrary.org/obo/CL_0002001CD34-positive, CD38-positive granulocyte monocyte progenitor
HP:0002655Spondyloepiphyseal dysplasia
http://purl.obolibrary.org/obo/CL_0002002Kit-positive granulocyte monocyte progenitor
HP:0002654Multiple epiphyseal dysplasia
HP:0002657Spondylometaphyseal dysplasia
http://purl.obolibrary.org/obo/CL_0002000Kit-positive erythroid progenitor cell
HP:0002651Spondyloepimetaphyseal dysplasia
HP:0002653Bone pain
http://purl.obolibrary.org/obo/UBERON_0005185renal medulla collecting duct
HP:0002669Osteosarcoma
http://purl.obolibrary.org/obo/UBERON_0005195deferent duct vein
http://purl.obolibrary.org/obo/UBERON_0005192deferent duct artery
http://purl.obolibrary.org/obo/PR_P35918vascular endothelial growth factor receptor 2 (mouse)
HP:0000003Multicystic kidney dysplasia
HP:0002667Nephroblastoma
http://purl.obolibrary.org/obo/UBERON_0005199cervical mammary gland
HP:0002661Painless fractures due to injury
http://purl.obolibrary.org/obo/UBERON_0005196spleen germinal center
http://purl.obolibrary.org/obo/CL_0002018CD71-negative, GlyA-positive orthochromatic erythroblast
http://purl.obolibrary.org/obo/CL_0002019Ly-76 high reticulocyte
http://purl.obolibrary.org/obo/CL_0002016CD71-low, GlyA-positive polychromatic erythroblast
http://purl.obolibrary.org/obo/CL_0002017Kit-negative, Ly-76 high orthochromatophilic erythroblasts
http://purl.obolibrary.org/obo/CL_0002014Kit-negative, Ly-76 high basophilic erythroblast
HP:0000019Urinary hesitancy
http://purl.obolibrary.org/obo/CL_0002015Kit-negative, Ly-76 high polychromatophilic erythroblast
http://purl.obolibrary.org/obo/MPATH_124infarct
http://purl.obolibrary.org/obo/MPATH_126growth and differentiation defect
http://purl.obolibrary.org/obo/CHEBI_62031polar amino acid zwitterion
HP:0002677Small foramen magnum
HP:0000016Urinary retention
http://purl.obolibrary.org/obo/CL_0002024Kit-positive megakaryocyte progenitor cell
HP:0002676Cloverleaf skull
HP:0000017Nocturia
http://purl.obolibrary.org/obo/CL_0002021GlyA-positive erythrocyte
http://purl.obolibrary.org/obo/CL_0002022Ly-76 high positive erythrocyte
HP:0002678Skull asymmetry
HP:0000012Urinary urgency
HP:0000013Hypoplasia of the uterus
http://purl.obolibrary.org/obo/CL_0002020GlyA-positive reticulocytes
http://purl.obolibrary.org/obo/CL_0002422enucleated reticulocyte
HP:0000011Neurogenic bladder
http://purl.obolibrary.org/obo/CL_0002009macrophage dendritic cell progenitor
http://purl.obolibrary.org/obo/GO_0030879mammary gland development
http://purl.obolibrary.org/obo/CL_0002005CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell
http://purl.obolibrary.org/obo/CL_0002006Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell
http://purl.obolibrary.org/obo/CL_0000050megakaryocyte-erythroid progenitor cell
http://purl.obolibrary.org/obo/GO_1905114cell surface receptor signaling pathway involved in cell-cell signaling
HP:0000029Testicular atrophy
http://purl.obolibrary.org/obo/CL_0002003CD34-positive, GlyA-negative erythroid progenitor cell
http://purl.obolibrary.org/obo/CL_0002004CD34-negative, GlyA-negative proerythroblast
HP:0012007Hallucinatory auras
HP:0012006Jamais vu
HP:0012005Deja vu
HP:0012004Mnemonic auras
HP:0012003Affective auras
HP:0012001EEG with generalized polyspikes
HP:0012000EEG with generalized spikes
HP:0002680J-shaped sella turcica
http://purl.obolibrary.org/obo/MPATH_120ecchymosis
http://purl.obolibrary.org/obo/MPATH_119hemorrhage and non-specified extravasation
HP:0002682Broad skull
HP:0012009EEG with central focal spike waves
HP:0012008Illusory auras
HP:0012002Experiential auras
HP:0002688Absent frontal sinuses
http://purl.obolibrary.org/obo/CL_0002012Kit-low proerythroblast
http://purl.obolibrary.org/obo/CL_0002013GlyA-positive basophillic erythroblast
HP:0000026Male hypogonadism
HP:0002684Thickened calvaria
HP:0000023Inguinal hernia
HP:0000024Prostatitis
HP:0000021Megacystis
http://purl.obolibrary.org/obo/GO_0030887positive regulation of myeloid dendritic cell activation
http://purl.obolibrary.org/obo/GO_0030889negative regulation of B cell proliferation
HP:0002614Hepatic periportal necrosis
http://purl.obolibrary.org/obo/CL_0002036Slamf1-positive multipotent progenitor cell
HP:0002616Aortic root aneurysm
http://purl.obolibrary.org/obo/MPATH_105circulatory disorder
http://purl.obolibrary.org/obo/GO_0030886negative regulation of myeloid dendritic cell activation
http://purl.obolibrary.org/obo/GO_0030885regulation of myeloid dendritic cell activation
http://purl.obolibrary.org/obo/UBERON_0005148metanephric S-shaped body
http://purl.obolibrary.org/obo/UBERON_0005147metanephric renal vesicle
http://purl.obolibrary.org/obo/CL_0002043CD34-positive, CD38-negative multipotent progenitor cell
http://purl.obolibrary.org/obo/UBERON_0005146metanephric nephron tubule
HP:0002613Biliary cirrhosis
HP:0002612Congenital hepatic fibrosis
http://purl.obolibrary.org/obo/CL_0002044Kit-positive, integrin beta7-high basophil mast progenitor cell
http://purl.obolibrary.org/obo/UBERON_0005145metanephric comma-shaped body
http://purl.obolibrary.org/obo/UBERON_0005144metanephric glomerular capillary
http://purl.obolibrary.org/obo/CL_0002029Fc-epsilon RIalpha-low mast cell progenitor
http://purl.obolibrary.org/obo/CL_0002027CD9-positive, CD41-positive megakaryocyte cell
HP:0002626Venous varicosities of celiac and mesenteric vessels
HP:0002619Varicose veins
http://purl.obolibrary.org/obo/CL_0002028basophil mast progenitor cell
HP:0002625Deep venous thrombosis
HP:0002627Right aortic arch with mirror image branching
http://purl.obolibrary.org/obo/GO_0030890positive regulation of B cell proliferation
http://purl.obolibrary.org/obo/GO_0030888regulation of B cell proliferation
http://purl.obolibrary.org/obo/CHEBI_490963-aminoisobutyrate
http://purl.obolibrary.org/obo/CL_0002034long term hematopoietic stem cell
http://purl.obolibrary.org/obo/CL_0002035Slamf1-negative multipotent progenitor cell
http://purl.obolibrary.org/obo/CL_0002033short term hematopoietic stem cell
http://purl.obolibrary.org/obo/CL_0002030Fc-epsilon RIalpha-high basophil progenitor cell
HP:0002639Budd-Chiari syndrome
HP:0002638Superficial thrombophlebitis
HP:0002632Low-to-normal blood pressure
HP:0002635Type IV atherosclerotic lesion
http://purl.obolibrary.org/obo/CL_0002064pancreatic acinar cell
http://purl.obolibrary.org/obo/CL_1001599pancreas exocrine glandular cell
HP:0002630Fat malabsorption
http://purl.obolibrary.org/obo/UBERON_0005171hepatic duct
HP:0002645Wormian bones
HP:0002642Arteriovenous fistulas of celiac and mesenteric vessels
HP:0004947Arteriovenous fistula
HP:0002641Peripheral thrombosis
HP:0012175Resistance to activated protein C
HP:0012174Glioblastoma multiforme
HP:0012173Orthostatic tachycardia
http://purl.obolibrary.org/obo/UBERON_0005109metanephric smooth muscle tissue
HP:0012172Stereotypical body rocking
HP:0012171Stereotypical hand wringing
HP:0012170Nail-biting
http://purl.obolibrary.org/obo/CHEBI_25017leucine
HP:0012178Reduced natural killer cell activity
HP:0012177Abnormal natural killer cell physiology
HP:0000196Lower lip pit
HP:0000193Bifid uvula
HP:0000191Accessory oral frenulum
HP:0000199Tongue nodules
http://purl.obolibrary.org/obo/UBERON_0007762metatarsophalangeal joint of pedal digit 5
HP:0000198Absence of Stensen duct
HP:0012186Entrapment neuropathy of the ulnar nerve at elbow
HP:0012185Constrictive median neuropathy
HP:0012184Increased HDL cholesterol concentration
HP:0012183Hyperplastic colonic polyposis
HP:0012182Oropharyngeal squamous cell carcinoma
http://purl.obolibrary.org/obo/UBERON_0007778umbilical artery endothelium
HP:0012189Hodgkin lymphoma
HP:0012188Hyperemesis gravidarum
HP:0012187Increased erythrocyte protoporphyrin concentration
http://purl.obolibrary.org/obo/UBERON_0005115metanephric cortical collecting duct
http://purl.obolibrary.org/obo/UBERON_0005113metanephric cortex mesenchyme
http://purl.obolibrary.org/obo/UBERON_0007774secondary dentition
http://purl.obolibrary.org/obo/UBERON_0005111metanephric pyramid
http://purl.obolibrary.org/obo/UBERON_0007772scrotal sweat
http://purl.obolibrary.org/obo/UBERON_0005110metanephric nephron
http://purl.obolibrary.org/obo/UBERON_0007773scrotal sweat gland
HP:0012197Insulinoma
HP:0012196Cheyne-Stokes respiration
HP:0012195Irregular respiration
HP:0012194Episodic hemiplegia
HP:0012193Anaplastic large-cell lymphoma
HP:0012192Cutaneous T-cell lymphoma
HP:0012191B-cell lymphoma
HP:0012199Cluster headache
HP:0012198Juvenile colonic polyposis
http://purl.obolibrary.org/obo/PR_P23769PR:P23769 located_in GO:0005654
http://purl.obolibrary.org/obo/UBERON_0005137metanephric capsule
http://purl.obolibrary.org/obo/UBERON_0005136metanephric glomerular endothelium
http://purl.obolibrary.org/obo/UBERON_0005135metanephric glomerular epithelium
http://purl.obolibrary.org/obo/UBERON_0005134metanephric nephron epithelium
http://purl.obolibrary.org/obo/UBERON_0005133metanephric glomerulus vasculature
http://purl.obolibrary.org/obo/PR_P33151cadherin-5 (human)
http://purl.obolibrary.org/obo/UBERON_0007723interphalangeal joint of manual digit 1
http://purl.obolibrary.org/obo/UBERON_0007724interphalangeal joint of pedal digit 1
HP:0012139Granulocytic hypoplasia
HP:0012138Granulocytic hyperplasia
HP:0012137Abnormal number of granulocyte precursors
HP:0012136Dysplastic granulopoesis
HP:0012134Dysplastic erythropoesis
HP:0012133Erythroid hypoplasia
HP:0000151Aplasia of the uterus
http://purl.obolibrary.org/obo/UBERON_0032748sacral spinal cord ventral horn
HP:0000155Oral ulcer
HP:0000154Wide mouth
HP:0012142Pancreatic squamous cell carcinoma
http://purl.obolibrary.org/obo/UBERON_0007738metacarpophalangeal joint of manual digit 2
http://purl.obolibrary.org/obo/UBERON_0007735metacarpophalangeal joint of manual digit 1
HP:0012149Bilineage myelodysplasia
HP:0012148Multiple lineage myelodysplasia
HP:0012147Reduced quantity of Von Willebrand factor
HP:0000160Narrow mouth
http://purl.obolibrary.org/obo/CHEBI_370242-aminoadipic acid
HP:0000169Gingival fibromatosis
HP:0000166Severe periodontitis
HP:0012153Hypotriglyceridemia
HP:0012152Foveoschisis
HP:0012151Hemothorax
HP:0012150Single lineage myelodysplasia
http://purl.obolibrary.org/obo/UBERON_0007747metacarpophalangeal joint of manual digit 5
http://purl.obolibrary.org/obo/CHEBI_370543-hydroxybutyrate
HP:0012156Hemophagocytosis
HP:0012155Decreased corneal sensation
HP:0012154Anhedonia
HP:0000171Microglossia
http://purl.obolibrary.org/obo/PR_P47774C-C chemokine receptor type 7 (mouse)
http://purl.obolibrary.org/obo/UBERON_0007744metacarpophalangeal joint of manual digit 4
http://purl.obolibrary.org/obo/UBERON_0007741metacarpophalangeal joint of manual digit 3
HP:0000179Thick lower lip vermilion
HP:0000176Submucous cleft hard palate
HP:0012164Asterixis
HP:0012163Carotid artery dilatation
HP:0012162Common carotid artery dissection
HP:0012161External carotid artery dissection
http://purl.obolibrary.org/obo/GO_1905277negative regulation of epithelial tube formation
HP:0012160Intracranial internal carotid artery dissection
HP:0012159Internal carotid artery dissection
HP:0012158Carotid artery dissection
http://purl.obolibrary.org/obo/GO_1905278positive regulation of epithelial tube formation
http://purl.obolibrary.org/obo/GO_1905276regulation of epithelial tube formation
http://purl.obolibrary.org/obo/UBERON_0007759metatarsophalangeal joint of pedal digit 4
http://purl.obolibrary.org/obo/UBERON_0007756metatarsophalangeal joint of pedal digit 3
HP:0012169Self-biting
HP:0012168Head-banging
HP:0012167Hair-pulling
HP:0012166Skin-picking
http://purl.obolibrary.org/obo/GO_0005886plasma membrane
HP:0000183Difficulty in tongue movements
HP:0000182Movement abnormality of the tongue
HP:0000180Lobulated tongue
http://purl.obolibrary.org/obo/UBERON_0007753metatarsophalangeal joint of pedal digit 2
http://purl.obolibrary.org/obo/UBERON_0007750metatarsophalangeal joint of pedal digit 1
HP:0000188Short upper lip
http://purl.obolibrary.org/obo/CHEBI_27612hydantoin
http://purl.obolibrary.org/obo/UBERON_0007709superior cerebellar peduncle of pons
http://purl.obolibrary.org/obo/CHEBI_15611sarcosine
http://purl.obolibrary.org/obo/CHEBI_27638cobalt atom
http://purl.obolibrary.org/obo/PR_P21183interleukin-5 receptor subunit alpha (mouse)
http://purl.obolibrary.org/obo/CHEBI_27622vanillylmandelate
http://purl.obolibrary.org/obo/CHEBI_15676allantoin
http://purl.obolibrary.org/obo/CHEBI_156415-methyltetrahydrofolic acid
http://www.informatics.jax.org/marker/MGI:109294Cd244 (mouse)
HP:0002707Palate telangiectasia
HP:0002708Prominent median palatal raphe
HP:0002705High, narrow palate
HP:0000189Narrow palate
HP:0002700Large foramen magnum
HP:0002699Abnormality of the foramen magnum
HP:0002714Downturned corners of mouth
http://www.informatics.jax.org/marker/MGI:88035Aox1 (mouse)
http://purl.obolibrary.org/obo/GO_0042756drinking behavior
HP:0002710Commissural lip pit
HP:0002711Exaggerated median tongue furrow
http://purl.obolibrary.org/obo/GO_0042754negative regulation of circadian rhythm
http://purl.obolibrary.org/obo/GO_0042755eating behavior
HP:0002729Follicular hyperplasia
HP:0002725Systemic lupus erythematosus
HP:0002724Recurrent Aspergillus infections
HP:0002726Recurrent Staphylococcus aureus infections
http://purl.obolibrary.org/obo/GO_0042747circadian sleep/wake cycle, REM sleep
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7045MGAT2 (human)
http://purl.obolibrary.org/obo/GO_0042745circadian sleep/wake cycle
HP:0002723Absence of bactericidal oxidative respiratory burst in phagocytes
HP:0002722Recurrent abscess formation
http://purl.obolibrary.org/obo/GO_0042742defense response to bacterium
http://purl.obolibrary.org/obo/UBERON_3000982tail external integument structure
http://purl.obolibrary.org/obo/GO_0042730fibrinolysis
http://purl.obolibrary.org/obo/UBERON_3000972head external integument structure
http://purl.obolibrary.org/obo/UBERON_3000977body external integument structure
http://purl.obolibrary.org/obo/GO_0042713sperm ejaculation
http://purl.obolibrary.org/obo/GO_0042703menstruation
http://purl.obolibrary.org/obo/MPATH_287islet cell adenoma
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9666PTPRC (human)
HP:0000117Renal phosphate wasting
http://purl.obolibrary.org/obo/UBERON_0005062neural fold
http://purl.obolibrary.org/obo/UBERON_0005061neural groove
http://purl.obolibrary.org/obo/MPATH_270adenoma
http://purl.obolibrary.org/obo/MPATH_556potentially cancerous lesions
http://purl.obolibrary.org/obo/MPATH_267glandular tumor
HP:0000113Polycystic kidney dysplasia
http://purl.obolibrary.org/obo/UBERON_0005068neural rod
http://purl.obolibrary.org/obo/CHEBI_64554tryptophan zwitterion
HP:0002777Tracheal stenosis
HP:0000111Renal juxtaglomerular cell hypertrophy/hyperplasia
http://purl.obolibrary.org/obo/UBERON_0005066right ventricular trabecular myocardium
HP:0000112Nephropathy
http://purl.obolibrary.org/obo/CHEBI_64558methionine zwitterion
http://purl.obolibrary.org/obo/UBERON_0005064left ventricular trabecular myocardium
HP:0000128Renal potassium wasting
HP:0012106Rhizomelic leg shortening
HP:0012105Occipital cortical atrophy
HP:0012104Parietal cortical atrophy
HP:0012101Decreased serum creatinine
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9606PTH (human)
HP:0012109Angle closure glaucoma
HP:0012108Open angle glaucoma
HP:0012107Increased fibular diameter
HP:0002787Tracheal calcification
HP:0000126Hydronephrosis
HP:0002786Tracheobronchomalacia
HP:0002780Bronchomalacia
HP:0000127Renal salt wasting
HP:0000125Pelvic kidney
HP:0000122Unilateral renal agenesis
http://purl.obolibrary.org/obo/UBERON_0005076hindbrain-spinal cord boundary
http://purl.obolibrary.org/obo/UBERON_0005075forebrain-midbrain boundary
HP:0000139Uterine prolapse
HP:0100823Genital hernia
HP:0012117Hyperalbuminemia
HP:0012114Endometrial carcinoma
HP:0012113Abnormal circulating creatine concentration
HP:0002790Neonatal breathing dysregulation
http://purl.obolibrary.org/obo/CHEBI_64570EC 2.1.2.1 (glycine hydroxymethyltransferase) inhibitor
HP:0002792Reduced vital capacity
http://purl.obolibrary.org/obo/UBERON_0005081ureter ureteric bud
http://purl.obolibrary.org/obo/UBERON_0005080metanephric ureteric bud
http://purl.obolibrary.org/obo/CHEBI_64571NMDA receptor agonist
http://purl.obolibrary.org/obo/CHEBI_50103excitatory amino acid agonist
HP:0012119Methemoglobinemia
HP:0012118Laryngeal carcinoma
http://purl.obolibrary.org/obo/CHEBI_64577flour treatment agent
HP:0000136Bifid uterus
http://purl.obolibrary.org/obo/UBERON_0005089sweat gland placode
http://purl.obolibrary.org/obo/UBERON_0005088sebaceous gland placode
HP:0000134Female hypogonadism
http://purl.obolibrary.org/obo/UBERON_0005087tooth placode
HP:0000131Uterine leiomyoma
http://purl.obolibrary.org/obo/UBERON_0005086hair follicle placode
HP:0000132Menorrhagia
HP:0012120Methylmalonic aciduria
HP:0012128Basal ganglia necrosis
HP:0012127Uraciluria
HP:0012126Stomach cancer
HP:0012125Prostate cancer
HP:0100787Prostate neoplasm
HP:0012124Intermediate uveitis
HP:0012123Posterior uveitis
HP:0012121Panuveitis
http://purl.obolibrary.org/obo/UBERON_0005095kidney rudiment
http://purl.obolibrary.org/obo/CHEBI_64584uremic toxin
http://purl.obolibrary.org/obo/UBERON_0005092right horn of sinus venosus
HP:0012129Abnormality of bone marrow stromal cells
http://purl.obolibrary.org/obo/CHEBI_64588glycine transporter 1 inhibitor
HP:0000148Vaginal atresia
http://purl.obolibrary.org/obo/CHEBI_64589glycine receptor agonist
HP:0000149Ovarian gonadoblastoma
HP:0000150Gonadoblastoma
HP:0000145Transverse vaginal septum
HP:0000143Rectovaginal fistula
http://purl.obolibrary.org/obo/UBERON_1000006collection of hair on forehead
HP:0002738Hypoplastic frontal sinuses
HP:0002737Thick skull base
http://purl.obolibrary.org/obo/UBERON_1000004collection of hair on external ear
http://purl.obolibrary.org/obo/UBERON_0005028mucosa of maxillary sinus
HP:0002732Lymph node hypoplasia
http://purl.obolibrary.org/obo/UBERON_0005027mucosa of frontal sinus
http://purl.obolibrary.org/obo/UBERON_0007689thyroid diverticulum
HP:0002731Decreased lymphocyte apoptosis
http://purl.obolibrary.org/obo/UBERON_0005025mucosa of uvula
http://purl.obolibrary.org/obo/UBERON_0007687kidney field
http://purl.obolibrary.org/obo/UBERON_0005024mucosa of soft palate
http://purl.obolibrary.org/obo/UBERON_0007684uriniferous tubule
http://purl.obolibrary.org/obo/UBERON_0005022mucosa of nasopharynx
HP:0002730Chronic noninfectious lymphadenopathy
http://purl.obolibrary.org/obo/UBERON_0005021mucosa of sphenoidal sinus
HP:0002747Respiratory insufficiency due to muscle weakness
http://purl.obolibrary.org/obo/GO_1905213negative regulation of mitotic chromosome condensation
HP:0002749Osteomalacia
http://purl.obolibrary.org/obo/UBERON_0007691gustatory pore
http://purl.obolibrary.org/obo/UBERON_0005030mucosa of paranasal sinus
http://purl.obolibrary.org/obo/UBERON_0007690early pharyngeal endoderm
HP:0002742Recurrent Klebsiella infections
http://purl.obolibrary.org/obo/PR_000020347integrin beta-7, signal peptide removed form
HP:0002745Oral leukoplakia
HP:0002744Bilateral cleft lip and palate
http://purl.obolibrary.org/obo/UBERON_0005033mucosa of gallbladder
HP:0002741Recurrent Serratia marcescens infections
HP:0002740Recurrent E. coli infections
http://purl.obolibrary.org/obo/UBERON_1000024parenchyma of spleen
http://purl.obolibrary.org/obo/MPATH_201vasculitis
http://purl.obolibrary.org/obo/MPATH_212inflammation
http://purl.obolibrary.org/obo/PR_P11836B-lymphocyte antigen CD20 (human)
http://purl.obolibrary.org/obo/UBERON_0005040mucosa of terminal bronchiole
http://purl.obolibrary.org/obo/UBERON_0005039mucosa of bronchiole
http://purl.obolibrary.org/obo/UBERON_0005049mucosa of infundibulum of uterine tube
http://purl.obolibrary.org/obo/UBERON_0005047mucosa of vocal fold
HP:0002756Pathologic fracture
http://purl.obolibrary.org/obo/UBERON_0005046mucosa of hard palate
http://purl.obolibrary.org/obo/UBERON_0005045mucosa of ethmoidal sinus
http://purl.obolibrary.org/obo/UBERON_0005044mucosa of pharyngotympanic tube
http://purl.obolibrary.org/obo/UBERON_0005026mucosa of middle ear
http://purl.obolibrary.org/obo/UBERON_1000020collection of hair on snout
HP:0002752Sparse bone trabeculae
HP:0100671Abnormal trabecular bone morphology
http://purl.obolibrary.org/obo/UBERON_0005042inner epithelial layer of tympanic membrane
HP:0000108Renal corticomedullary cysts
http://purl.obolibrary.org/obo/UBERON_1000015skin of snout
http://purl.obolibrary.org/obo/UBERON_0005051mediastinum testis
HP:0002764Stippled chondral calcification
HP:0000105Enlarged kidney
HP:0000103Polyuria
HP:0002766Relatively short spine
http://purl.obolibrary.org/obo/UBERON_0005056external female genitalia
HP:0002761Generalized joint laxity
HP:0012296Slender distal phalanx of finger
HP:0012295Slender middle phalanx of finger
HP:0012292Fusion of gums
http://purl.obolibrary.org/obo/MPATH_429myxomatous tumor
http://purl.obolibrary.org/obo/UBERON_0007646endomeninx
http://purl.obolibrary.org/obo/UBERON_0007647ectomeninx
http://purl.obolibrary.org/obo/CHEBI_76924plant metabolite
HP:0012299Long distal phalanx of finger
http://purl.obolibrary.org/obo/CHEBI_50315chloronium
HP:0012298Long middle phalanx of finger
http://purl.obolibrary.org/obo/CHEBI_49323contraceptive drug
HP:0012297Slender proximal phalanx of finger
http://purl.obolibrary.org/obo/UBERON_0007641trigeminal nuclear complex
http://purl.obolibrary.org/obo/CHEBI_50326sulfanylmethyl group
http://purl.obolibrary.org/obo/CHEBI_25362elemental molecule
http://purl.obolibrary.org/obo/UBERON_0007652esophageal sphincter
http://purl.obolibrary.org/obo/UBERON_0005006mucosa of renal pelvis
http://purl.obolibrary.org/obo/CHEBI_503302-amino-2-oxoethyl group
http://purl.obolibrary.org/obo/MPATH_404soft tissue tumor
http://purl.obolibrary.org/obo/CHEBI_503313-amino-3-oxopropyl group
http://purl.obolibrary.org/obo/CHEBI_503364-hydroxybenzyl group
http://purl.obolibrary.org/obo/CHEBI_503371H-indol-3-ylmethyl group
http://purl.obolibrary.org/obo/CHEBI_503292-carboxyethyl group
http://purl.obolibrary.org/obo/UBERON_0005005mucosa of left ureter
http://purl.obolibrary.org/obo/UBERON_0005004mucosa of right ureter
http://purl.obolibrary.org/obo/UBERON_0005003mucosa of left hepatic duct
http://purl.obolibrary.org/obo/UBERON_0005002mucosa of right hepatic duct
http://purl.obolibrary.org/obo/UBERON_0005001mucosa of common hepatic duct
http://purl.obolibrary.org/obo/UBERON_0005000mucosa of common bile duct
http://purl.obolibrary.org/obo/UBERON_2001073axial vasculature
http://purl.obolibrary.org/obo/CHEBI_503403-carbamimidamidopropyl group
http://purl.obolibrary.org/obo/UBERON_0005019mucosa of palate
http://purl.obolibrary.org/obo/UBERON_0005018mucosa of nasal septum
http://purl.obolibrary.org/obo/UBERON_0005017mucosa of lacrimal sac
http://purl.obolibrary.org/obo/UBERON_0005043mucosa of nasolacrimal duct
http://purl.obolibrary.org/obo/CHEBI_503411-hydroxyethyl group
http://purl.obolibrary.org/obo/CHEBI_503381H-imidazol-4-ylmethyl group
http://purl.obolibrary.org/obo/CHEBI_503394-aminobutyl group
http://purl.obolibrary.org/obo/UBERON_0005014mucosa of female urethra
http://purl.obolibrary.org/obo/UBERON_0005013mucosa of male urethra
http://purl.obolibrary.org/obo/UBERON_0005012mucosa of left uterine tube
http://purl.obolibrary.org/obo/UBERON_0005011mucosa of right uterine tube
http://purl.obolibrary.org/obo/UBERON_0005048mucosa of uterine tube
http://purl.obolibrary.org/obo/UBERON_0005010mucosa of neck of urinary bladder
HP:0012251ST segment elevation
HP:0012250ST segment depression
http://purl.obolibrary.org/obo/UBERON_0007602stratified columnar epithelium
HP:0012259Absent inner and outer dynein arms
HP:0012258Abnormal axonemal organization of respiratory motile cilia
HP:0012257Absent inner dynein arms
HP:0012256Absent outer dynein arms
HP:0012254Ewing sarcoma
HP:0000272Malar flattening
HP:0000273Facial grimacing
http://purl.obolibrary.org/obo/CL_0002200oxyphil cell of thyroid
http://purl.obolibrary.org/obo/CHEBI_37397chondroitin sulfate
HP:0000276Long face
HP:0000275Narrow face
HP:0012263Immotile cilia
http://purl.obolibrary.org/obo/UBERON_2001053future internal carotid artery
HP:0012260Abnormal central microtubular pair morphology of respiratory motile cilia
http://purl.obolibrary.org/obo/UBERON_0007618synovial cavity of hip joint
http://purl.obolibrary.org/obo/UBERON_0007617synovial cavity of joint
HP:0012268Myxoid liposarcoma
HP:0012034Liposarcoma
HP:0012267Absent respiratory ciliary axoneme radial spokes
HP:0012266T-wave alternans
HP:0012265Ciliary dyskinesia
HP:0012262Abnormal ciliary motility
HP:0012264Absent central microtubular pair morphology of respiratory motile cilia
HP:0000283Broad face
HP:0100729Large face
HP:0000289Broad philtrum
HP:0000287Increased facial adipose tissue
HP:0012274Autosomal dominant inheritance with paternal imprinting
HP:0012273Increased carotid artery intimal medial thickness
HP:0012272J wave
HP:0012271Episodic upper airway obstruction
HP:0002781Upper airway obstruction
HP:0012270Decreased muscle glycogen content
HP:0012279Hyposerinemia
HP:0012277Hypoglycinemia
HP:0012276Digital flexor tenosynovitis
HP:0012275Autosomal dominant inheritance with maternal imprinting
HP:0000294Low anterior hairline
HP:0000295Doll-like facies
HP:0000293Full cheeks
HP:0000298Mask-like facies
HP:0000297Facial hypotonia
HP:0012284Small proximal tibial epiphyses
HP:0012283Small distal femoral epiphysis
HP:0012282Morbilliform rash
HP:0012281Chylous ascites
HP:0012280Hepatic amyloidosis
http://purl.obolibrary.org/obo/CL_0002209intermediate epitheliocyte
HP:0012287Hypothalamic luteinizing hormone-releasing hormone deficiency
http://zfin.org/action/marker/view/ZDB-GENE-030131-1577prom1a (zebrafish)
http://purl.obolibrary.org/obo/CHEBI_743451-(5-hydroxy-2-oxo-2,3-dihydroimidazol-4-yl)urea
http://purl.obolibrary.org/obo/CHEBI_86327antifungal drug
http://purl.obolibrary.org/obo/CHEBI_74337D-asparagine zwitterion
http://purl.obolibrary.org/obo/CHEBI_15999(4-hydroxyphenyl)pyruvic acid
http://purl.obolibrary.org/obo/CHEBI_15966D-glutamic acid
http://purl.obolibrary.org/obo/CHEBI_15963ribitol
http://purl.obolibrary.org/obo/CHEBI_76971Escherichia coli metabolite
http://purl.obolibrary.org/obo/CHEBI_76967human xenobiotic metabolite
http://purl.obolibrary.org/obo/CHEBI_76206xenobiotic metabolite
http://purl.obolibrary.org/obo/CHEBI_76956Aspergillus metabolite
http://purl.obolibrary.org/obo/CHEBI_25354mineralocorticoid
http://purl.obolibrary.org/obo/CHEBI_25355mitochondrial respiratory-chain inhibitor
http://purl.obolibrary.org/obo/CHEBI_769282,3-saturated fatty acid(1-)
http://purl.obolibrary.org/obo/CHEBI_769292,3-saturated fatty acid
HP:0002816Genu recurvatum
HP:0002812Coxa vara
http://purl.obolibrary.org/obo/CHEBI_15903beta-D-glucose
HP:0002810Dumbbell-shaped metaphyses
HP:0002828Multiple joint contractures
HP:0002826Halberd-shaped pelvis
HP:0002825Caudal appendage
HP:0002822Hyperplasia of the femoral trochanters
HP:0002821Neuropathic arthropathy
HP:0002839Urinary bladder sphincter dysfunction
HP:0002835Aspiration
HP:0002834Flared femoral metaphysis
http://purl.obolibrary.org/obo/PR_000029055Saccharomyces cerevisiae protein
HP:0002836Bladder exstrophy
HP:0002831Long coccyx
HP:0002833Cystic angiomatosis of bone
HP:0012062Bone cyst
HP:0002832Calcific stippling
HP:0002849Absence of lymph node germinal center
HP:0002848Decreased specific anti-polysaccharide antibody level
HP:0002847Impaired memory B cell generation
HP:0002842Recurrent Burkholderia cepacia infections
HP:0002840Lymphadenitis
HP:0002805Accelerated bone age after puberty
HP:0002804Arthrogryposis multiplex congenita
http://purl.obolibrary.org/obo/CL_0002236basal epithelial cell of prostatic duct
http://purl.obolibrary.org/obo/CL_0002341basal cell of prostate epithelium
HP:0012216Entrapment neuropathy of suprascapular nerve
HP:0012181Entrapment neuropathy
HP:0012215Testicular microlithiasis
HP:0012214Increased glomerular filtration rate
HP:0012213Decreased glomerular filtration rate
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7315MS4A1 (human)
HP:0012212Abnormal glomerular filtration rate
http://purl.obolibrary.org/obo/MPATH_387odontoma
HP:0002891Uterine leiomyosarcoma
HP:0012219Erythema nodosum
HP:0012218Alveolar soft part sarcoma
HP:0012217Increased urinary porphobilinogen
HP:0002897Benign neoplasm: Parathyroid gland
HP:0000237Small anterior fontanelle
http://purl.obolibrary.org/obo/CL_0002241pulmonary interstitial fibroblast
HP:0000232Everted lower lip vermilion
http://purl.obolibrary.org/obo/CL_0002240marrow fibroblast
HP:0002895Papillary thyroid carcinoma
HP:0000230Gingivitis
http://purl.obolibrary.org/obo/CL_0002224lens epithelial cell
http://purl.obolibrary.org/obo/CL_0002222vertebrate lens cell
HP:0012225Oligodontia of primary teeth
HP:0012224Circulating immune complexes
http://purl.obolibrary.org/obo/PR_P08101low affinity immunoglobulin gamma Fc region receptor II (mouse)
HP:0012223Splenic rupture
http://purl.obolibrary.org/obo/UBERON_0020550auricular blood vessel
HP:0012222Arachnoid hemangiomatosis
HP:0012221Pretibial blistering
HP:0012220Non-caseating epithelioid cell granulomatosis
http://purl.obolibrary.org/obo/MPATH_379odontogenic tumor
HP:0012228Tension-type headache
http://purl.obolibrary.org/obo/CL_0002231epithelial cell of prostate
HP:0000243Trigonocephaly
HP:0000244Brachyturricephaly
HP:0000242Parietal bossing
HP:0002696Abnormal parietal bone morphology
HP:0012230Rhegmatogenous retinal detachment
http://purl.obolibrary.org/obo/CL_0002257epithelial cell of thyroid gland
HP:0012238Increased circulating chylomicron concentration
HP:0012237Urocanic aciduria
HP:0012236Elevated sweat chloride
HP:0012235Drug-induced agranulocytosis
HP:0012233Intramuscular hematoma
HP:0012232Shortened QT interval
HP:0012231Exudative retinal detachment
HP:0000250Dense calvaria
HP:0012239Atransferrinemia
HP:0000255Acute sinusitis
http://purl.obolibrary.org/obo/CL_0002260epithelial cell of parathyroid gland
http://purl.obolibrary.org/obo/CL_1001593parathyroid glandular cell
HP:0000253Progressive microcephaly
HP:0012241Levator palpebrae superioris atrophy
HP:0012240Increased intramyocellular lipid droplets
HP:0012248Prolonged PR interval
HP:0012247Specific anosmia
HP:0012246Oculomotor nerve palsy
HP:0012245Sex reversal
HP:0012244Abnormal sex determination
HP:0012242Superior rectus atrophy
HP:0000260Wide anterior fontanel
http://purl.obolibrary.org/obo/CL_0002254epithelial cell of small intestine
HP:0000269Prominent occiput
HP:0000265Mastoiditis
HP:0000263Oxycephaly
HP:0000262Turricephaly
http://purl.obolibrary.org/obo/GO_1905349ciliary transition zone assembly
http://purl.obolibrary.org/obo/MPATH_346autoimmune mediated disease
http://purl.obolibrary.org/obo/MPATH_194immune mediated disease
http://purl.obolibrary.org/obo/MPATH_188immunopathological process
http://purl.obolibrary.org/obo/PR_000030026CALCA gene translation product (human)
HP:0002853Increased proportion of HLA DR+ T cells
HP:0002851Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
HP:0002850Decreased circulating total IgM
http://purl.obolibrary.org/obo/GO_1905331negative regulation of morphogenesis of an epithelium
http://purl.obolibrary.org/obo/GO_1905332positive regulation of morphogenesis of an epithelium
http://purl.obolibrary.org/obo/GO_1905330regulation of morphogenesis of an epithelium
HP:0002868Narrow iliac wings
HP:0002869Flared iliac wings
HP:0000206Glossitis
HP:0002863Myelodysplasia
HP:0002866Hypoplastic iliac wing
HP:0000201Pierre-Robin sequence
HP:0000162Glossoptosis
HP:0002865Medullary thyroid carcinoma
HP:0000200Short lingual frenulum
HP:0000218High palate
HP:0002879Anisospondyly
HP:0002878Respiratory failure
HP:0000219Thin upper lip vermilion
HP:0000216Broad secondary alveolar ridge
HP:0000187Broad alveolar ridges
HP:0000217Xerostomia
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9958REN (human)
http://purl.obolibrary.org/obo/MPATH_322teratoma
http://purl.obolibrary.org/obo/MPATH_254complex tumor
HP:0002875Exertional dyspnea
HP:0000214Lip telangiectasia
HP:0000215Thick upper lip vermilion
HP:0002877Nocturnal hypoventilation
HP:0000212Gingival overgrowth
HP:0002876Episodic tachypnea
HP:0002789Tachypnea
HP:0002871Central apnea
HP:0002870Obstructive sleep apnea
HP:0000211Trismus
HP:0002872Apneic episodes precipitated by illness, fatigue, stress
HP:0000227Tongue telangiectasia
HP:0012205Globozoospermia
HP:0012204Recurrent vulvovaginal candidiasis
HP:0012203Onychomycosis
http://purl.obolibrary.org/obo/MPATH_310germ cell tumor
http://purl.obolibrary.org/obo/MPATH_309gonadal tumor
http://purl.obolibrary.org/obo/UBERON_0007590cuboidal oviduct epithelium
HP:0012209Juvenile myelomonocytic leukemia
HP:0012208Nonmotile sperm
HP:0012207Reduced sperm motility
HP:0012206Abnormal sperm motility
HP:0002886Vagal paraganglioma
HP:0000225Gingival bleeding
HP:0002888Ependymoma
HP:0000224Decreased taste sensation
HP:0002882Sudden episodic apnea
HP:0000221Furrowed tongue
HP:0000222Gingival hyperkeratosis
HP:0002884Hepatoblastoma
http://purl.obolibrary.org/obo/CL_0002293epithelial cell of thymus
HP:0000220Velopharyngeal insufficiency
http://purl.obolibrary.org/obo/CHEBI_37257phytanate
HP:0012371Hyperplasia of midface
HP:0012370Prominence of the zygomatic bone
http://purl.obolibrary.org/obo/MPATH_502monocytic leukaemia
http://purl.obolibrary.org/obo/MPATH_342myeloid leukaemia
HP:0012376Microphakia
HP:0012375Chemosis
HP:0000394Lop ear
HP:0000391Thickened helices
HP:0000399Prelingual sensorineural hearing impairment
HP:0000395Prominent antihelix
HP:0012383Bidirectional shunt
HP:0012382Left-to-right shunt
HP:0012381Delayed self-feeding during toddler years
HP:0012380Reduced carnitine O-palmitoyltransferase level
HP:0012389Appendicular hypotonia
HP:0012388Acute bronchitis
http://purl.obolibrary.org/obo/CHEBI_50249anticoagulant
http://purl.obolibrary.org/obo/CHEBI_50248hematologic agent
HP:0012386Absent hallux
HP:0012395Seasonal allergy
HP:0012394Iodine contrast allergy
HP:0012392Jaw hyporeflexia
HP:0012391Hyporeflexia of upper limbs
HP:0012390Anal fissure
HP:0012399Pressure ulcer
HP:0012398Peripheral edema
HP:0012397Aortic atherosclerotic lesion
http://purl.obolibrary.org/obo/UBERON_0007500epithelial tube open at both ends
http://purl.obolibrary.org/obo/CHEBI_50266prodrug
http://purl.obolibrary.org/obo/CHEBI_76874EC 2.1.2.* (hydroxymethyl-, formyl- and related transferases) inhibitor
http://purl.obolibrary.org/obo/CHEBI_76655EC 2.1.* (C1-transferase) inhibitor
http://purl.obolibrary.org/obo/CP_0000000neutrophillic cytoplasm
http://purl.obolibrary.org/obo/CHEBI_27897tryptophan
http://purl.obolibrary.org/obo/CP_0000028basophilic cytoplasm
http://purl.obolibrary.org/obo/CP_0000027acidophilic cytoplasm
http://purl.obolibrary.org/obo/CHEBI_15891taurine
http://purl.obolibrary.org/obo/CP_0000035polychromatophilic cytoplasm
http://purl.obolibrary.org/obo/CP_0000037increased nucleus size
http://purl.obolibrary.org/obo/GO_0005634nucleus
HP:0002938Lumbar hyperlordosis
HP:0002933Ventral hernia
http://purl.obolibrary.org/obo/GO_1905427intracellular signal transduction involved in positive regulation of cell growth
HP:0002930Impaired sensitivity to thyroid hormone
HP:0002932Aldehyde oxidase deficiency
HP:0002947Cervical kyphosis
http://purl.obolibrary.org/obo/GO_1905419sperm flagellum movement involved in flagellated sperm motility
http://purl.obolibrary.org/obo/CL_0002198oncocyte
http://purl.obolibrary.org/obo/CL_0002195hepatic stem cell
HP:0002959Impaired Ig class switch recombination
HP:0002958Immune dysregulation
HP:0002951Partial absence of cerebellar vermis
HP:0002953Vertebral compression fractures
HP:0000308Microretrognathia
HP:0000278Retrognathia
HP:0002967Cubitus valgus
HP:0000307Pointed chin
HP:0000303Mandibular prognathia
HP:0002965Cutaneous anergy
HP:0000300Oval face
HP:0002961Dysgammaglobulinemia
HP:0002905Hyperphosphatemia
HP:0002907Microscopic hematuria
HP:0002902Hyponatremia
HP:0002909Generalized aminoaciduria
HP:0002908Conjugated hyperbilirubinemia
HP:0002918Hypermagnesemia
HP:0002917Hypomagnesemia
HP:0004921Abnormal magnesium concentration
HP:0002912Methylmalonic acidemia
HP:0002914Hyperchloriduria
HP:0002919Ketonuria
http://purl.obolibrary.org/obo/CHEBI_15801(R)-2-hydroxyglutarate(2-)
HP:0002927Histidinuria
HP:0002929Leydig cell insensitivity to gonadotropin
HP:0002928Decreased activity of the pyruvate dehydrogenase complex
HP:0002923Rheumatoid factor positive
HP:0002925Increased thyroid-stimulating hormone level
HP:0002920Decreased circulating ACTH level
HP:0012334Extrahepatic cholestasis
HP:0012333Abnormal sudomotor regulation
http://purl.obolibrary.org/obo/CHEBI_49167anti-asthmatic drug
HP:0012339Increased resting energy expenditure
HP:0012340Decreased resting energy expenditure
HP:0012338Abnormal energy expenditure
http://purl.obolibrary.org/obo/CHEBI_50160steroid acid anion
HP:0012348Decreased galactosylation of N-linked protein glycosylation
HP:0012344Morphea
HP:0012343Decreased serum ferritin
HP:0012342Macroprolactinoma
HP:0012341Microprolactinoma
HP:0000368Low-set, posteriorly rotated ears
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000362Otosclerosis
HP:0012351Increased sialylation of N-linked protein glycosylation
HP:0012350Decreased sialylation of N-linked protein glycosylation
HP:0012357Increased mannosylation of N-linked protein glycosylation
http://purl.obolibrary.org/obo/CHEBI_50176keratolytic drug
HP:0012356Decreased mannosylation of N-linked protein glycosylation
HP:0012355Abnormal mannosylation of N-linked protein glycosylation
HP:0012354Increased fucosylation of N-linked protein glycosylation
HP:0012353Decreased fucosylation of N-linked protein glycosylation
HP:0012352Abnormal fucosylation of protein N-linked glycosylation
HP:0000371Acute otitis media
http://purl.obolibrary.org/obo/MPATH_496Non-Lymphoid leukaemias
http://purl.obolibrary.org/obo/MPATH_515Non-Lymphoid neoplasias
http://purl.obolibrary.org/obo/MPATH_335hematopoietic/lymphoid malignancies/disorder
http://purl.obolibrary.org/obo/MPATH_218neoplasm
http://purl.obolibrary.org/obo/CL_0002145ciliated columnar cell of tracheobronchial tree
HP:0000378Cupped ear
http://purl.obolibrary.org/obo/CL_0002140acinar cell of sebaceous gland
HP:0000376Incomplete partition of the cochlea type II
HP:0012361Increased fucosylation of O-linked protein glycosylation
HP:0012360Decreased fucosylation of O-linked protein glycosylation
http://purl.obolibrary.org/obo/CL_0002127innate effector T cell
http://purl.obolibrary.org/obo/GO_0030990intraciliary transport particle
HP:0012368Flat face
HP:0012367Extra fontanelles
HP:0012366Basilar invagination
HP:0012365Hypophosphaturia
http://purl.obolibrary.org/obo/MPATH_476telangiectasia
HP:0012364Decreased urinary potassium
HP:0012363Decreased sialylation of O-linked protein glycosylation
HP:0000389Chronic otitis media
HP:0000387Absent earlobe
HP:0000384Preauricular skin tag
HP:0000385Small earlobe
HP:0000319Smooth philtrum
HP:0000317Facial myokymia
HP:0000316Hypertelorism
HP:0000311Round face
HP:0002972Reduced delayed hypersensitivity
HP:0002963Abnormal delayed hypersensitivity skin test
HP:0002971Absent microvilli on the surface of peripheral blood lymphocytes
http://purl.obolibrary.org/obo/CL_0002148dental pulp cell
http://purl.obolibrary.org/obo/CL_0002149epithelial cell of uterus
HP:0012304Hypoplastic aortic arch
HP:0012302Herpes simplex encephalitis
HP:0012301Type II transferrin isoform profile
HP:0012300Ureteral agenesis
HP:0012308Decreased serum complement C9
HP:0012307Spatulate ribs
HP:0000325Triangular face
HP:0002987Elbow flexion contracture
HP:0000322Short philtrum
HP:0002986Radial bowing
HP:0000320Bird-like facies
HP:0000321Square face
HP:0000339Pugilistic facies
HP:0000280Coarse facial features
HP:0000337Broad forehead
HP:0000338Hypomimic face
HP:0012315Histiocytoma
HP:0012314Bouchard's node
HP:0012313Heberden's node
HP:0012312Monocytopenia
HP:0012311Monocytosis
HP:0012310Abnormal monocyte count
HP:0012144Abnormality monocyte morphology
HP:0002990Fibula agenesis
HP:0012319Absent pigmentation of the abdomen
HP:0012318Occipital neuralgia
HP:0012317Sacroiliac arthritis
HP:0000331Short chin
http://purl.obolibrary.org/obo/CL_0002183stem cell of gastric gland
http://purl.obolibrary.org/obo/CL_0002180mucous cell of stomach
http://purl.obolibrary.org/obo/CL_0002659glandular cell of stomach
HP:0000348High forehead
HP:0000349Widow's peak
HP:0012325Chronic myelomonocytic leukemia
HP:0012324Myeloid leukemia
HP:0012323Sleep myoclonus
HP:0012322Perifolliculitis
HP:0012321D-2-hydroxyglutaric aciduria
HP:0012320Absent pigmentation of the limbs
HP:0012329Tufted angioma
HP:0012328Cementoma
HP:0012327Celiac artery compression
HP:0012326Abnormal celiac artery morphology
HP:0000346Whistling appearance
HP:0000205Pursed lips
http://purl.obolibrary.org/obo/CL_0002178epithelial cell of stomach
HP:0000343Long philtrum
HP:0000340Sloping forehead
HP:0000341Narrow forehead
HP:0000350Small forehead
http://purl.obolibrary.org/obo/CL_0010002epithelial cell of umbilical artery
http://purl.obolibrary.org/obo/CL_0010004mononuclear cell of bone marrow
http://purl.obolibrary.org/obo/CL_0010020cardiac glial cell
http://purl.obolibrary.org/obo/CL_0010012cerebral cortex neuron
http://purl.obolibrary.org/obo/UBERON_0007414nucleus of midbrain tegmentum
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15855CD93 (human)
http://purl.obolibrary.org/obo/CL_0010022cardiac neuron
HP:0012494Anterior cerebral artery stenosis
HP:0012493Middle cerebral artery stenosis
HP:0012491Abnormal dense tubular system
HP:0012490Panniculitis
http://purl.obolibrary.org/obo/PR_P35456urokinase plasminogen activator surface receptor (mouse)
HP:0012499Descending aortic dissection
HP:0002647Aortic dissection
HP:0012498Nuchal cord
HP:0012497Reduced maximal expiratory pressure
HP:0012496Reduced maximal inspiratory pressure
HP:0012495Posterior cerebral artery stenosis
HP:0012492Cerebral artery stenosis
http://purl.obolibrary.org/obo/PR_000019972gastrin, signal peptide removed form
http://purl.obolibrary.org/obo/CL_0000613basophil progenitor cell
http://purl.obolibrary.org/obo/PATO_0001195proximal to
http://purl.obolibrary.org/obo/CHEBI_42090L-threitol
http://purl.obolibrary.org/obo/PR_Q08890iduronate 2-sulfatase (mouse)
http://purl.obolibrary.org/obo/CL_0000622acinar cell
http://purl.obolibrary.org/obo/PR_P35461lymphocyte antigen 6G (mouse)
http://purl.obolibrary.org/obo/CL_0000657secondary spermatocyte
http://purl.obolibrary.org/obo/CL_0000656primary spermatocyte
http://purl.obolibrary.org/obo/CL_0000017spermatocyte
http://purl.obolibrary.org/obo/PR_Q8CIZ8von Willebrand factor (mouse)
http://purl.obolibrary.org/obo/CL_0000670primordial germ cell
http://purl.obolibrary.org/obo/CL_0009004retinal cell
http://purl.obolibrary.org/obo/CHEBI_29057keratan
HP:0000408Progressive sensorineural hearing impairment
HP:0000403Recurrent otitis media
http://purl.obolibrary.org/obo/CHEBI_68641(-)-cotinine
http://purl.obolibrary.org/obo/CHEBI_32697argininium(2+)
http://purl.obolibrary.org/obo/CHEBI_32696argininium(1+)
http://purl.obolibrary.org/obo/CHEBI_32695argininate
HP:0000418Narrow nasal ridge
HP:0000417Slender nose
HP:0000414Bulbous nose
HP:0000410Mixed hearing impairment
HP:0000411Protruding ear
HP:0000426Prominent nasal bridge
HP:0012403Decreased urine alpha-ketoglutarate concentration
HP:0012402Increased urine alpha-ketoglutarate concentration
HP:0012401Abnormal urine alpha-ketoglutarate concentration
http://purl.obolibrary.org/obo/GO_1905516positive regulation of fertilization
HP:0012409Cortical nephrocalcinosis
HP:0012408Medullary nephrocalcinosis
HP:0012407Scissor gait
HP:0012406Hypercitraturia
HP:0012405Hypocitraturia
HP:0012404Abnormal urine citrate concentration
HP:0000420Short nasal septum
http://purl.obolibrary.org/obo/CHEBI_30089acetate
http://purl.obolibrary.org/obo/CL_0000712stratum granulosum cell
http://purl.obolibrary.org/obo/CL_0000710neurecto-epithelial cell
http://purl.obolibrary.org/obo/CL_0000075columnar/cuboidal epithelial cell
http://purl.obolibrary.org/obo/PATO_0001168undamaged
http://purl.obolibrary.org/obo/PATO_0001167damaged
http://purl.obolibrary.org/obo/PATO_0001172inelastic
http://purl.obolibrary.org/obo/PATO_0001154elongated
http://purl.obolibrary.org/obo/PATO_0001153insusceptible toward
http://purl.obolibrary.org/obo/PATO_0001163decreased concentration
http://purl.obolibrary.org/obo/PATO_0001162increased concentration
http://purl.obolibrary.org/obo/PATO_0001159concentrated
HP:0012450Chronic constipation
http://purl.obolibrary.org/obo/CHEBI_17002cholesteryl ester
HP:0012458Medial calcification of small arteries
HP:0012457Medial calcification of medium-sized arteries
HP:0012456Medial arterial calcification
HP:0012454Unilateral wrist flexion contracture
HP:0012453Bilateral wrist flexion contracture
HP:0012452Restless legs
HP:0012451Acute constipation
HP:0000470Short neck
HP:0000471Gastrointestinal angiodysplasia
http://purl.obolibrary.org/obo/CHEBI_32627leucinate
HP:0012459Hypnic headache
HP:0000474Thickened nuchal skin fold
HP:0000475Broad neck
HP:0000472Long neck
HP:0000473Torticollis
HP:0012461Bacteriuria
HP:0012460Dysmorphic inferior cerebellar vermis
HP:0012469Infantile spasms
http://purl.obolibrary.org/obo/CHEBI_17012N-acetylneuraminic acid
HP:0012467Acute respiratory acidosis
http://purl.obolibrary.org/obo/CHEBI_78017food propellant
http://purl.obolibrary.org/obo/CHEBI_76414propellant
HP:0012466Chronic respiratory acidosis
HP:0012465Elevated hepatic iron concentration
HP:0012464Decreased transferrin saturation
HP:0012463Elevated transferrin saturation
HP:0012462Chin myoclonus
http://purl.obolibrary.org/obo/CHEBI_32613isoleucinium
http://purl.obolibrary.org/obo/UBERON_0007373inferior surface of tongue
http://purl.obolibrary.org/obo/UBERON_0007371superior surface of tongue
http://purl.obolibrary.org/obo/UBERON_0007367surface of tongue
http://purl.obolibrary.org/obo/CHEBI_32612isoleucinate
http://purl.obolibrary.org/obo/UBERON_0034953embryonic lymph sac
http://purl.obolibrary.org/obo/UBERON_0007377stratum compactum of dermis
http://purl.obolibrary.org/obo/UBERON_0007374incus cartilage element
HP:0000484Hyperopic astigmatism
HP:0012471Thick vermilion border
HP:0012470Setting-sun eye phenomenon
http://purl.obolibrary.org/obo/CHEBI_206645beta-cholane
HP:0012479Temporomandibular joint crepitus
HP:0012478Temporomandibular joint ankylosis
HP:0012477Vocal tremor
HP:0012476Decreased specific pneumococcal antibody level
HP:0012474Carotid artery occlusion
HP:0012473Tongue atrophy
http://purl.obolibrary.org/obo/UBERON_0007383enveloping layer of ectoderm
http://purl.obolibrary.org/obo/CHEBI_32646methioninium
HP:0000490Deeply set eye
http://purl.obolibrary.org/obo/CHEBI_32644methioninate
HP:0000497Globe retraction and deviation on abduction
http://purl.obolibrary.org/obo/UBERON_0034940venous sinus cavity
http://purl.obolibrary.org/obo/UBERON_0007385pectoral appendage lymph vessel
HP:0000494Downslanted palpebral fissures
http://purl.obolibrary.org/obo/UBERON_0007386pelvic appendage lymph vessel
http://purl.obolibrary.org/obo/UBERON_0007384appendage lymph vessel
HP:0000495Recurrent corneal erosions
HP:0012482Frontal venous angioma
HP:0012481Cerebral venous angioma
HP:0012489Suprasellar arachnoid cyst
HP:0012488Intraventricular arachnoid cyst
HP:0012487Cerebellopontine angle arachnoid cyst
HP:0012486Myelitis
http://purl.obolibrary.org/obo/CHEBI_32628leucinium
HP:0012485Abnormal surface-connected open canalicular system
http://purl.obolibrary.org/obo/UBERON_0009989condyle of tibia
HP:0000437Depressed nasal tip
HP:0012414Duodenal atrophy
http://purl.obolibrary.org/obo/CHEBI_29016arginine
HP:0012413Notched primary central incisor
HP:0012412Premature adrenarche
HP:0012411Premature pubarche
HP:0012410Pure red cell aplasia
http://purl.obolibrary.org/obo/UBERON_0010977flexor pre-muscle mass
http://purl.obolibrary.org/obo/UBERON_0019307epithelium of external nose
HP:0000434Nasal mucosa telangiectasia
http://purl.obolibrary.org/obo/UBERON_0010970intercostal pre-muscle mass
http://purl.obolibrary.org/obo/UBERON_0009988condyle of humerus
http://purl.obolibrary.org/obo/UBERON_0010975external oblique pre-muscle mass
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
http://purl.obolibrary.org/obo/UBERON_0009984medial condyle of femur
http://purl.obolibrary.org/obo/UBERON_0009980condyle of femur
HP:0000447Pear-shaped nose
HP:0000448Prominent nose
HP:0012425Stercoral ulcer
http://purl.obolibrary.org/obo/UBERON_0019315meibum
HP:0012424Chorioretinitis
HP:0012423Colonic inertia
http://purl.obolibrary.org/obo/UBERON_0020358accessory XI nerve nucleus
HP:0012422Villous hypertrophy of choroid plexus
HP:0012421Congenital absence of foreskin
http://purl.obolibrary.org/obo/CHEBI_17053L-aspartic acid
HP:0012420Meconium stained amniotic fluid
http://purl.obolibrary.org/obo/CHEBI_32657D-asparaginium
HP:0012428Prominent calcaneus
http://purl.obolibrary.org/obo/CHEBI_32656D-asparaginate
HP:0012427Excessive femoral anteversion
HP:0012426Optic disc drusen
http://purl.obolibrary.org/obo/UBERON_0010982latissimus dorsi pre-muscle mass
http://purl.obolibrary.org/obo/CHEBI_32650L-asparaginate
http://purl.obolibrary.org/obo/CHEBI_32660asparaginate
HP:0000445Wide nose
HP:0000446Narrow nasal bridge
http://purl.obolibrary.org/obo/CHEBI_32651L-asparaginium
http://purl.obolibrary.org/obo/CHEBI_32661asparaginium
HP:0000444Convex nasal ridge
http://purl.obolibrary.org/obo/UBERON_0010986serratus ventralis pre-muscle mass
http://purl.obolibrary.org/obo/UBERON_0010984pectoral pre-muscle mass
http://purl.obolibrary.org/obo/UBERON_0010983levator scapulae pre-muscle mass
http://purl.obolibrary.org/obo/UBERON_0034994hindbrain cortical intermediate zone
HP:0012436Nonocclusive coronary artery atherosclerosis
HP:0012435Ventral shortening of foreskin
http://www.informatics.jax.org/marker/MGI:95797Gpi1 (mouse)
HP:0012434Delayed social development
HP:0012432Chronic fatigue
HP:0012431Episodic fatigue
http://purl.obolibrary.org/obo/CHEBI_17026progesterone
http://purl.obolibrary.org/obo/CHEBI_64600C21-steroid hormone
HP:0000456Bifid nasal tip
HP:0000457Depressed nasal ridge
HP:0000454Flared nostrils
HP:0000455Broad nasal tip
http://purl.obolibrary.org/obo/GO_0062023collagen-containing extracellular matrix
HP:0000451Triangular nasal tip
HP:0012446Decreased CSF 5-methyltetrahydrofolate concentration
HP:0012442Gallbladder dyskinesia
HP:0012441Sphincter of Oddi dyskinesia
HP:0012396Biliary dyskinesia
HP:0012439Abnormal biliary tract physiology
http://purl.obolibrary.org/obo/CHEBI_32679glutaminium
HP:0000460Narrow nose
http://purl.obolibrary.org/obo/CHEBI_32678glutaminate
HP:0012449Sacroiliac joint synovitis
HP:0100781Abnormality of the sacroiliac joint
HP:0000468Increased adipose tissue around the neck
HP:0000465Webbed neck
HP:0000466Limited neck range of motion
http://purl.obolibrary.org/obo/UBERON_0007354cartilage of pharyngotympanic tube
http://purl.obolibrary.org/obo/UBERON_0007355bony part of pharyngotympanic tube
http://purl.obolibrary.org/obo/CL_0000575corneal epithelial cell
http://purl.obolibrary.org/obo/UBERON_0010929stapedius pre-muscle condensation
http://purl.obolibrary.org/obo/UBERON_0010935tensor tympani pre-muscle condensation
http://purl.obolibrary.org/obo/UBERON_0010933orbicularis oris muscle
http://purl.obolibrary.org/obo/CL_0000566angioblastic mesenchymal cell
http://purl.obolibrary.org/obo/CL_0000562nucleate erythrocyte
http://purl.obolibrary.org/obo/UBERON_0009958bladder lumen
http://purl.obolibrary.org/obo/UBERON_0010946occipitofrontalis muscle
http://purl.obolibrary.org/obo/UBERON_0010943anterior digastric muscle
http://purl.obolibrary.org/obo/UBERON_0010949sternooccipital muscle
http://purl.obolibrary.org/obo/UBERON_0010948cleidooccipital muscle
http://purl.obolibrary.org/obo/UBERON_0009953post-embryonic organism
http://purl.obolibrary.org/obo/UBERON_0010940muscle of digastric group
http://purl.obolibrary.org/obo/UBERON_0007307pronephric glomerular basement membrane
http://purl.obolibrary.org/obo/CL_0000595enucleate erythrocyte
http://purl.obolibrary.org/obo/UBERON_0007306pronephric glomerular capillary
http://purl.obolibrary.org/obo/UBERON_0010955trapezius pre-muscle mass
http://purl.obolibrary.org/obo/PR_Q921V5alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (mouse)
http://purl.obolibrary.org/obo/UBERON_0007303pharyngeal vasculature
http://purl.obolibrary.org/obo/UBERON_0007302pectoral appendage vasculature
http://purl.obolibrary.org/obo/UBERON_0007304appendage vasculature
http://purl.obolibrary.org/obo/UBERON_0010953nasalis muscle
http://purl.obolibrary.org/obo/UBERON_0010952frontalis muscle belly
http://purl.obolibrary.org/obo/UBERON_0010938muscle belly
http://purl.obolibrary.org/obo/UBERON_0009979condyle
http://purl.obolibrary.org/obo/UBERON_0007315internal pudendal artery
http://purl.obolibrary.org/obo/UBERON_0007312pudendal artery
http://purl.obolibrary.org/obo/UBERON_0009970epithelium of pancreatic duct
http://purl.obolibrary.org/obo/UBERON_0010963trunk and cervical myotome group
http://purl.obolibrary.org/obo/UBERON_0009973ureterovesical junction
http://purl.obolibrary.org/obo/UBERON_0010962extensor pre-muscle mass
http://purl.obolibrary.org/obo/UBERON_0009972ureteropelvic junction
http://purl.obolibrary.org/obo/UBERON_0034928dorsal surface of penis
http://purl.obolibrary.org/obo/GO_0015671oxygen transport
http://purl.obolibrary.org/obo/GO_0015669gas transport
http://purl.obolibrary.org/obo/UBERON_0009917kidney corticomedullary boundary
http://purl.obolibrary.org/obo/UBERON_0009916wall of ureter
http://purl.obolibrary.org/obo/UBERON_0009919ureter smooth muscle
http://purl.obolibrary.org/obo/UBERON_0009913renal lobe
http://purl.obolibrary.org/obo/UBERON_0009914renal lobule
http://purl.obolibrary.org/obo/UBERON_0034909intermaxillary suture
http://purl.obolibrary.org/obo/UBERON_0010905clavicle bone primordium
http://purl.obolibrary.org/obo/NCBITaxon_4932Saccharomyces cerevisiae
http://purl.obolibrary.org/obo/CHEBI_81568Luteinizing hormone
http://purl.obolibrary.org/obo/UBERON_0034905gland lumen
http://purl.obolibrary.org/obo/UBERON_0034907pineal parenchyma
http://purl.obolibrary.org/obo/UBERON_0005158parenchyma of central nervous system
http://purl.obolibrary.org/obo/UBERON_0034902sacral sympathetic nerve trunk
http://purl.obolibrary.org/obo/UBERON_0034901cervical sympathetic nerve trunk
http://purl.obolibrary.org/obo/UBERON_0034903left atrium endocardium
http://purl.obolibrary.org/obo/UBERON_0009920optic neural crest
http://purl.obolibrary.org/obo/GO_0015696ammonium transport
http://purl.obolibrary.org/obo/GO_0015672monovalent inorganic cation transport
http://purl.obolibrary.org/obo/CL_0000513cardiac muscle myoblast
http://purl.obolibrary.org/obo/CL_0010021cardiac myoblast
http://purl.obolibrary.org/obo/CL_0000525syncytiotrophoblast cell
http://purl.obolibrary.org/obo/CL_0000558reticulocyte
http://purl.obolibrary.org/obo/CL_0000557granulocyte monocyte progenitor cell
http://purl.obolibrary.org/obo/CL_0000556megakaryocyte
http://purl.obolibrary.org/obo/CL_1001610bone marrow hematopoietic cell
http://purl.obolibrary.org/obo/CL_0000553megakaryocyte progenitor cell
http://purl.obolibrary.org/obo/CL_0000552orthochromatic erythroblast
http://purl.obolibrary.org/obo/CL_0000559promonocyte
http://purl.obolibrary.org/obo/CL_0002194monopoietic cell
http://purl.obolibrary.org/obo/CL_0000547proerythroblast
http://purl.obolibrary.org/obo/CL_0000549basophilic erythroblast
http://purl.obolibrary.org/obo/CL_0000550polychromatophilic erythroblast
HP:0000519Developmental cataract
http://purl.obolibrary.org/obo/PATO_0001229high saturation
HP:0000526Aniridia
HP:0000524Conjunctival telangiectasia
HP:0012502Abnormality of the internal capsule
HP:0012500Verrucous papule
HP:0012509Reduced thyroxin-binding globulin
HP:0012508Metamorphopsia
HP:0012507Weakness of orbicularis oculi muscle
HP:0012505Enlarged pituitary gland
HP:0000522Alacrima
HP:0000537Epicanthus inversus
HP:0000538Pseudopapilledema
HP:0000535Sparse and thin eyebrow
HP:0012510Extra-axial cerebrospinal fluid accumulation
HP:0012519Hypoplastic posterior communicating artery
HP:0012517Reduced catalase level
HP:0012515Hip flexor weakness
HP:0000531Corneal crystals
HP:0012524Abnormal platelet shape
HP:0012523Oral aversion
HP:0012522Spider hemangioma
HP:0012521Optic nerve aplasia
HP:0012520Perivascular spaces
HP:0012529Abnormal dense granule content
HP:0012527Abnormal alpha granule content
HP:0012526Absence of alpha granules
HP:0012528Abnormal number of alpha granules
HP:0012525Abnormal alpha granule distribution
HP:0012483Abnormal alpha granules
http://purl.obolibrary.org/obo/UBERON_0034898alveolar ridge of premaxilla
HP:0000542Impaired ocular adduction
http://purl.obolibrary.org/obo/UBERON_0007284presumptive neural plate
http://purl.obolibrary.org/obo/UBERON_0007285presumptive paraxial mesoderm
http://purl.obolibrary.org/obo/UBERON_0007282presumptive segmental plate
http://purl.obolibrary.org/obo/UBERON_0007280presumptive endocardium
http://purl.obolibrary.org/obo/UBERON_0007281presumptive midbrain hindbrain boundary
http://purl.obolibrary.org/obo/UBERON_0007288presumptive forebrain midbrain boundary
http://purl.obolibrary.org/obo/UBERON_0007289presumptive rhombomere 1
http://purl.obolibrary.org/obo/CHEBI_685663-methylglutaric acid
http://purl.obolibrary.org/obo/UBERON_0007299choroid plexus of tectal ventricle
http://purl.obolibrary.org/obo/UBERON_0007297presumptive pronephric mesoderm
http://purl.obolibrary.org/obo/PR_Q06278PR:Q06278 located_in GO:0005829
HP:0000506Telecanthus
http://purl.obolibrary.org/obo/UBERON_0019293white matter of pontine tegmentum
HP:0000503Tortuosity of conjunctival vessels
http://purl.obolibrary.org/obo/CHEBI_8504prostanoic acid
HP:0012571Duplication of ureter
HP:0012570Synovial sarcoma
HP:0012579Minimal change glomerulonephritis
HP:0012578Membranous nephropathy
HP:0012577Thin glomerular basement membrane
HP:0012576Glomerular C3 deposition
HP:0012574Mesangial hypercellularity
HP:0012573Global proximal tubulopathy
HP:0012572Duplication of ureter
http://purl.obolibrary.org/obo/CHEBI_32504phenylalaninate
http://purl.obolibrary.org/obo/UBERON_0007240tunica adventitia of artery
http://purl.obolibrary.org/obo/UBERON_0007241tunica adventitia of vein
HP:0000592Blue sclerae
http://purl.obolibrary.org/obo/UBERON_0010899synchronous hermaphroditic organism
http://purl.obolibrary.org/obo/CHEBI_32505phenylalaninium
HP:0000590Progressive external ophthalmoplegia
http://www.informatics.jax.org/marker/MGI:95661Gata1 (mouse)
http://www.informatics.jax.org/marker/MGI:95662Gata2 (mouse)
http://purl.obolibrary.org/obo/UBERON_0010893median external naris
http://purl.obolibrary.org/obo/UBERON_0007247nucleus of superior olivary complex
http://purl.obolibrary.org/obo/UBERON_0007242tunica intima of vein
http://purl.obolibrary.org/obo/UBERON_0007243tunica media of vein
HP:0000594Shallow anterior chamber
HP:0012582Bilateral renal dysplasia
HP:0012581Solitary renal cyst
HP:0012580Calcium phosphate nephrolithiasis
HP:0012589Multidrug-resistant nephrotic syndrome
HP:0012588Steroid-resistant nephrotic syndrome
HP:0012587Macroscopic hematuria
HP:0012586Bilateral renal atrophy
HP:0012584Bilateral renal hypoplasia
HP:0012583Unilateral renal hypoplasia
HP:0000089Renal hypoplasia
http://purl.obolibrary.org/obo/UBERON_0007250lingual tonsil
http://www.informatics.jax.org/marker/MGI:1351314Slamf1 (mouse)
http://purl.obolibrary.org/obo/UBERON_0007257intervertebral disk of sacral vertebra
http://purl.obolibrary.org/obo/UBERON_0007255intervertebral disk of lumbar vertebra
http://purl.obolibrary.org/obo/UBERON_0007254intervertebral disk of thoracic vertebra
HP:0012593Nephrotic range proteinuria
http://purl.obolibrary.org/obo/UBERON_0019247plantar skin crease
HP:0012597Heavy proteinuria
http://purl.obolibrary.org/obo/UBERON_0019246palmar skin crease
HP:0012596Moderate proteinuria
HP:0012595Mild proteinuria
HP:0012594Microalbuminuria
HP:0012592Albuminuria
http://purl.obolibrary.org/obo/UBERON_0019243skin crease
http://purl.obolibrary.org/obo/UBERON_0007262intervertebral disk of fifth cervical vertebra
http://purl.obolibrary.org/obo/UBERON_0007260intervertebral disk of third cervical vertebra
http://purl.obolibrary.org/obo/UBERON_0007261intervertebral disk of fourth cervical vertebra
http://purl.obolibrary.org/obo/UBERON_0007266intervertebral disk of atlas
http://purl.obolibrary.org/obo/UBERON_0007267trachea pre-cartilage rings
http://purl.obolibrary.org/obo/UBERON_0007265intervertebral disk of axis
http://purl.obolibrary.org/obo/UBERON_0007252intervertebral disk of cervical vertebra
http://purl.obolibrary.org/obo/CHEBI_32508glycinate
http://purl.obolibrary.org/obo/CHEBI_32507glycinium
http://purl.obolibrary.org/obo/UBERON_0019255lower eyelash
http://purl.obolibrary.org/obo/UBERON_0019254upper eyelash
http://purl.obolibrary.org/obo/PR_P11413glucose-6-phosphate 1-dehydrogenase (human)
http://purl.obolibrary.org/obo/PR_000007749glucose-6-phosphate 1-dehydrogenase
http://purl.obolibrary.org/obo/UBERON_0007279presumptive atrioventricular canal
http://purl.obolibrary.org/obo/UBERON_0007277presumptive hindbrain
http://purl.obolibrary.org/obo/UBERON_0007278presumptive sinus venosus
HP:0000559Corneal scarring
HP:0000557Buphthalmos
HP:0000558Rieger anomaly
HP:0012534Dysesthesia
HP:0012533Allodynia
HP:0012532Chronic pain
HP:0012530Abnormal number of dense granules
HP:0012538Gluten intolerance
HP:0012536Maternal anticardiolipin antibody positive
http://purl.obolibrary.org/obo/UBERON_0007204brachiocephalic vasculature
http://purl.obolibrary.org/obo/UBERON_0010850tibia pre-cartilage condensation
HP:0000555Leukocoria
HP:0000552Tritanomaly
http://purl.obolibrary.org/obo/UBERON_0010852fibula pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0005259lower leg mesenchyme
http://purl.obolibrary.org/obo/UBERON_0010851fibula cartilage element
HP:0000550Undetectable electroretinogram
http://purl.obolibrary.org/obo/UBERON_0009879tarsal skeleton
HP:0012546Skewed maternal X inactivation
HP:0012545Reduced aldolase level
HP:0012544Elevated aldolase level
HP:0012400Abnormal aldolase level
HP:0012543Hemosiderinuria
HP:0012542Onychauxis
http://purl.obolibrary.org/obo/CHEBI_32529histidinate(1-)
HP:0012541Cephalohematoma
HP:0012540Axillary epidermoid cyst
HP:0012549Conjunctival lipoma
http://purl.obolibrary.org/obo/CHEBI_32532histidinium(2+)
HP:0012548Fatty replacement of skeletal muscle
http://purl.obolibrary.org/obo/UBERON_0034876future neurohypophysis
http://purl.obolibrary.org/obo/UBERON_0034875future pituitary gland
http://purl.obolibrary.org/obo/CHEBI_32531histidinium(1+)
http://purl.obolibrary.org/obo/UBERON_0034878prechordal mesoderm
HP:0000564Lacrimal duct atresia
http://purl.obolibrary.org/obo/CHEBI_32530histidinate(2-)
http://purl.obolibrary.org/obo/UBERON_0007214mesenchyme derived from trunk neural crest
http://purl.obolibrary.org/obo/UBERON_0009871nephrogenic zone
HP:0000563Keratoconus
http://purl.obolibrary.org/obo/UBERON_0034874air in respiratory system
http://purl.obolibrary.org/obo/UBERON_0034947gas in respiratory system
http://purl.obolibrary.org/obo/UBERON_0034873bodily gas
http://purl.obolibrary.org/obo/UBERON_0007228vestibular nucleus
HP:0012557EEG with centrotemporal focal spike waves
http://purl.obolibrary.org/obo/UBERON_0019206tongue papilla epithelium
http://purl.obolibrary.org/obo/PATO_0001201Y-shaped
HP:0012556Hyperbetaalaninemia
http://purl.obolibrary.org/obo/UBERON_0019204skin epithelium
HP:0012555Absent nail of hallux
HP:0012554Absent thumbnail
HP:0012553Hypoplastic thumbnail
HP:0012552Increased neutrophil nuclear projections
http://purl.obolibrary.org/obo/UBERON_0019200skin of anterior chest
HP:0012550Colonic varices
http://purl.obolibrary.org/obo/UBERON_0009881anterior lateral plate mesoderm
http://purl.obolibrary.org/obo/UBERON_0009880carpal skeleton
http://purl.obolibrary.org/obo/UBERON_0009878mesopodial skeleton
http://purl.obolibrary.org/obo/CHEBI_32565lysinium(2+)
HP:0012559Increased T3/T4 ratio
http://purl.obolibrary.org/obo/UBERON_0019207chorioretinal region
http://purl.obolibrary.org/obo/UBERON_0009887interlobar vein
http://purl.obolibrary.org/obo/CHEBI_32564lysinium(1+)
http://purl.obolibrary.org/obo/UBERON_0009889secondary heart field
http://purl.obolibrary.org/obo/CHEBI_32563lysinate
HP:0000576Centrocecal scotoma
http://purl.obolibrary.org/obo/UBERON_0009883medullary ray
http://purl.obolibrary.org/obo/UBERON_0007223osseus cochlea
HP:0000574Thick eyebrow
http://purl.obolibrary.org/obo/UBERON_0009885interlobar artery
http://purl.obolibrary.org/obo/UBERON_0007220late embryonic stage
HP:0012560Decreased T3/T4 ratio
HP:0012558Abnormal T3/T4 ratio
HP:0012568Lower eyelid edema
HP:0012567Premature epimetaphyseal fusion in ulna
HP:0012566Premature epimetaphyseal fusion in radius
HP:0012565Premature epimetaphyseal fusion in fibula
HP:0012564Premature epimetaphyseal fusion in tibia
HP:0012563Premature epimetaphyseal fusion in foot
HP:0012562Premature epimetaphyseal fusion in hand
HP:0012561Unicuspid aortic valve
http://www.informatics.jax.org/marker/MGI:95674Gcg (mouse)
HP:0012569Delayed menarche
http://purl.obolibrary.org/obo/UBERON_00072371st arch mandibular component
HP:0000588Optic nerve coloboma
http://purl.obolibrary.org/obo/UBERON_00072381st arch maxillary component
HP:0000586Shallow orbits
HP:0000520Proptosis
http://purl.obolibrary.org/obo/UBERON_0010887tragus
HP:0000584Punctate corneal epithelial erosions
HP:0000585Band keratopathy
HP:0000582Upslanted palpebral fissure
http://www.informatics.jax.org/marker/MGI:95494Fcer1a (mouse)
http://www.informatics.jax.org/marker/MGI:95499Fcgr2 (mouse)
http://purl.obolibrary.org/obo/UBERON_0009847prostate field
http://purl.obolibrary.org/obo/UBERON_0009843prostate epithelial cord
http://purl.obolibrary.org/obo/UBERON_0009845urogenital sinus mesenchyme
http://purl.obolibrary.org/obo/UBERON_0009844urogenital sinus lumen
http://purl.obolibrary.org/obo/UBERON_0009857cavum septum pellucidum
http://purl.obolibrary.org/obo/UBERON_0009859endosteum
http://purl.obolibrary.org/obo/UBERON_0010847ulna pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010846radius pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010844clavicle pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010849tibia cartilage element
http://purl.obolibrary.org/obo/UBERON_0010848radius-ulna cartilage element
http://purl.obolibrary.org/obo/UBERON_0010843clavicle cartilage element
http://purl.obolibrary.org/obo/UBERON_0010842calcaneum cartilage element
HP:0010077Broad distal phalanx of the hallux
HP:0010078Bullet-shaped distal phalanx of the hallux
HP:0010079Curved distal phalanx of the hallux
HP:0009094Cleft lower alveolar ridge
HP:0009092Progressive alveolar ridge hypertropy
HP:0010070Curved 1st metatarsal
HP:0010071Osteolytic defects of the 1st metatarsal
HP:0010072Patchy sclerosis of the 1st metatarsal
HP:0100945Sclerosis of the 1st metatarsal
HP:0009098Chronic oral candidiasis
HP:0010074Triangular shaped 1st metatarsal
HP:0009088Speech articulation difficulties
http://purl.obolibrary.org/obo/CHEBI_173253-hydroxy-3-methylglutarate(2-)
HP:0010086Broad proximal phalanx of the hallux
http://purl.obolibrary.org/obo/CHEBI_78298environmental contaminant
HP:0010087Bullet-shaped proximal phalanx of the hallux
HP:0010088Curved proximal phalanx of the hallux
HP:0010089Osteolytic defects of the proximal phalanx of the hallux
HP:0010080Osteolytic defects of the distal phalanx of the hallux
HP:0010081Patchy sclerosis of the distal phalanx of the hallux
HP:0100944Sclerosis of the distal phalanx of the hallux
http://purl.obolibrary.org/obo/CHEBI_32926octadecane
HP:0010082Symphalangism affecting the distal phalanx of the hallux
HP:0010083Triangular shaped distal phalanx of the hallux
http://purl.obolibrary.org/obo/CHEBI_17336all-trans-retinol
http://purl.obolibrary.org/obo/CHEBI_50211retinol
HP:0010097Partial duplication of the distal phalanx of the hallux
HP:0010098Complete duplication of the 1st metatarsal
HP:0010099Partial duplication of the 1st metatarsal
HP:0010075Duplication of the 1st metatarsal
HP:0010090Patchy sclerosis of the proximal phalanx of the hallux
HP:0100943Sclerosis of the proximal phalanx of the hallux
HP:0010092Triangular shaped proximal phalanx of the hallux
HP:0010094Complete duplication of the proximal phalanx of the hallux
HP:0010095Partial duplication of the proximal phalanx of the hallux
HP:0010093Duplication of the proximal phalanx of the hallux
HP:0010096Complete duplication of the distal phalanx of the hallux
HP:0010084Duplication of the distal phalanx of the hallux
http://purl.obolibrary.org/obo/CHEBI_32964ornithinate
http://purl.obolibrary.org/obo/UBERON_0010801calcaneum pre-cartilage condensation
HP:0000705Amelogenesis imperfecta
http://purl.obolibrary.org/obo/CL_0000862suppressor macrophage
http://purl.obolibrary.org/obo/CL_0000861elicited macrophage
HP:0000700Periapical bone loss
http://purl.obolibrary.org/obo/CL_0000860classical monocyte
http://purl.obolibrary.org/obo/CHEBI_8386pregnane
http://purl.obolibrary.org/obo/CL_0000896activated CD4-positive, alpha-beta T cell
http://purl.obolibrary.org/obo/CL_0000895naive thymus-derived CD4-positive, alpha-beta T cell
http://purl.obolibrary.org/obo/CL_0000894DN1 thymic pro-T cell
http://purl.obolibrary.org/obo/CL_0000889myeloid suppressor cell
http://purl.obolibrary.org/obo/CL_0000891foam cell
http://purl.obolibrary.org/obo/GO_0003978Defective GALE does not epimerise UDP-Gal to UDP-Glc
HP:0000636Upper eyelid coloboma
HP:0000637Long palpebral fissure
HP:0000634Impaired ocular abduction
HP:0000635Blue irides
HP:0012611Increased urinary urate
http://purl.obolibrary.org/obo/UBERON_0019189carotid artery endothelium
HP:0012619Multiple bladder diverticula
HP:0012618Urachal cyst
HP:0012617Erythrocyte cylindruria
HP:0012616Leukocyte cylindruria
HP:0012613Increased urinary sulfate
http://purl.obolibrary.org/obo/UBERON_0019190mucous gland of lung
HP:0000633Decreased lacrimation
http://purl.obolibrary.org/obo/UBERON_0019198dorsal nerve of clitoris
http://purl.obolibrary.org/obo/UBERON_0019197dorsal nerve of penis
http://purl.obolibrary.org/obo/UBERON_0019196iliac artery endothelium
HP:0000647Sclerocornea
HP:0000646Amblyopia
HP:0012623Stage 1 chronic kidney disease
http://purl.obolibrary.org/obo/PATO_0001333temporally extended
HP:0012621Persistent cloaca
HP:0012629Phakodonesis
HP:0012628Abnormal suspensory ligament of lens morphology
HP:0012627Pseudoexfoliation
HP:0012626Stage 4 chronic kidney disease
HP:0012625Stage 3 chronic kidney disease
HP:0012624Stage 2 chronic kidney disease
HP:0000643Blepharospasm
HP:0000658Eyelid apraxia
HP:0000659Peters anomaly
HP:0000657Oculomotor apraxia
HP:0012634Iris pigment dispersion
HP:0012631Pigment deposition in the trabecular meshwork
HP:0012630Abnormal trabecular meshwork morphology
http://purl.obolibrary.org/obo/CL_0000912helper T cell
HP:0012637Renal calcium wasting
HP:0012635Iris hypoperfusion
HP:0000654Decreased light- and dark-adapted electroretinogram amplitude
HP:0000652Lower eyelid coloboma
HP:0000650Abnormal amplitude of pattern reversal visual evoked potentials
HP:0000651Diplopia
HP:0000667Phthisis bulbi
HP:0000668Hypodontia
HP:0012645Enlarged peripheral nerve
HP:0012644Increased caudate lactate level
http://purl.obolibrary.org/obo/CL_0000906activated CD8-positive, alpha-beta T cell
HP:0012642Cerebellar agenesis
HP:0012641Decreased intracranial pressure
HP:0012640Abnormality of intracranial pressure
http://purl.obolibrary.org/obo/PATO_0001354translucent
http://purl.obolibrary.org/obo/CL_0000900naive thymus-derived CD8-positive, alpha-beta T cell
http://purl.obolibrary.org/obo/CL_0000898naive T cell
HP:0012648Decreased inflammatory response
HP:0012646Retractile testis
http://purl.obolibrary.org/obo/CL_0000908CD8-positive, alpha-beta cytokine secreting effector T cell
HP:0000664Synophrys
HP:0000661Palpebral fissure narrowing on adduction
HP:0000660Lipemia retinalis
http://purl.obolibrary.org/obo/UBERON_0019143intramuscular adipose tissue
http://purl.obolibrary.org/obo/GO_1905747negative regulation of saliva secretion
http://purl.obolibrary.org/obo/CL_0000937pre-natural killer cell
http://purl.obolibrary.org/obo/CL_0000936early lymphoid progenitor
http://purl.obolibrary.org/obo/PATO_0001394diploid
http://purl.obolibrary.org/obo/UBERON_0007160inferior petrosal sinus
HP:0000607Periorbital wrinkles
HP:0000603Central scotoma
HP:0000601Hypotelorism
HP:0000609Optic nerve hypoplasia
http://purl.obolibrary.org/obo/PATO_0001375haploid
http://purl.obolibrary.org/obo/PATO_0001393euploid
http://purl.obolibrary.org/obo/PATO_0001374ploidy
http://purl.obolibrary.org/obo/UBERON_0007174medial border of scapula
http://purl.obolibrary.org/obo/UBERON_0007175inferior angle of scapula
http://purl.obolibrary.org/obo/UBERON_0007172angle of scapula
http://purl.obolibrary.org/obo/UBERON_0007173lateral border of scapula
http://purl.obolibrary.org/obo/UBERON_0007171border of scapula
http://purl.obolibrary.org/obo/UBERON_0007177lamina propria of mucosa of colon
HP:0000619Impaired convergence
HP:0000612Iris coloboma
HP:0000613Photophobia
http://purl.obolibrary.org/obo/UBERON_0007181serosa of infundibulum of uterine tube
http://purl.obolibrary.org/obo/UBERON_0007182muscle layer of infundibulum of uterine tube
HP:0000629Periorbital fullness
HP:0000627Posterior embryotoxon
HP:0000625Eyelid coloboma
HP:0000623Supranuclear ophthalmoplegia
HP:0012601Hypochloriduria
http://purl.obolibrary.org/obo/CL_0000946antibody secreting cell
HP:0012609Hypomagnesiuria
http://purl.obolibrary.org/obo/UBERON_0007196tracheobronchial tree
HP:0012608Hypermagnesiuria
http://purl.obolibrary.org/obo/UBERON_0007197hermaphroditic organism
http://purl.obolibrary.org/obo/UBERON_0007195stroma of bone marrow
HP:0012606Renal sodium wasting
HP:0012605Hypernatriuria
HP:0012604Hyponatriuria
HP:0012603Abnormal urine sodium concentration
HP:0012602Renal chloride wasting
HP:0012600Abnormal urine chloride concentration
HP:0000620Dacryocystitis
HP:0012692Focal T2 hyperintense thalamic lesion
HP:0010031Patchy sclerosis of the 1st metacarpal
HP:0100914Sclerosis of the 1st metacarpal
HP:0012691Focal T2 hypointense thalamic lesion
HP:0012690T2 hypointense thalamus
HP:0010033Triangular shaped 1st metacarpal
HP:0010034Short 1st metacarpal
HP:0010035Aplasia of the 1st metacarpal
HP:0010037Aplasia of the 2nd metacarpal
HP:0010038Short 2nd metacarpal
http://purl.obolibrary.org/obo/CHEBI_29214sulfonic acid
HP:0012699Anomaly of lower limb diaphyses
HP:0012698Cerebellar gliosis
HP:0012697Small basal ganglia
HP:0012696Abnormal thalamic MRI signal intensity
http://purl.obolibrary.org/obo/CHEBI_32859valinate
HP:0012695Decreased thalamic volume
HP:0009054Scapuloperoneal myopathy
HP:0012694Enlarged thalamic volume
HP:0012693Abnormal thalamic size
HP:0010030Osteolytic defects of the 1st metacarpal
http://purl.obolibrary.org/obo/CHEBI_32867D-prolinate
HP:0009046Difficulty running
http://purl.obolibrary.org/obo/CHEBI_32868D-prolinium
HP:0009045Exercise-induced rhabdomyolysis
http://purl.obolibrary.org/obo/UBERON_0034726trunk taste bud
http://purl.obolibrary.org/obo/CHEBI_32862L-prolinate
http://purl.obolibrary.org/obo/UBERON_0034728autonomic nerve
http://purl.obolibrary.org/obo/CHEBI_32864L-prolinium
HP:0009049Peroneal muscle atrophy
http://purl.obolibrary.org/obo/UBERON_0034721pharyngeal taste bud
http://purl.obolibrary.org/obo/UBERON_0007128glomeral mesenchyme
http://purl.obolibrary.org/obo/UBERON_0034724esophageal taste bud
http://purl.obolibrary.org/obo/CHEBI_32860valinium
http://purl.obolibrary.org/obo/UBERON_0007123pharyngeal pouch 2
http://purl.obolibrary.org/obo/UBERON_0007124pharyngeal pouch 3
http://purl.obolibrary.org/obo/UBERON_0034720head taste bud
http://purl.obolibrary.org/obo/UBERON_0007122pharyngeal pouch 1
HP:0010043Aplasia of the 4th metacarpal
HP:0010044Short 4th metacarpal
HP:0010042Aplasia/Hypoplasia of the 4th metacarpal
HP:0010046Aplasia of the 5th metacarpal
HP:0010047Short 5th metacarpal
HP:0010045Aplasia/Hypoplasia of the 5th metacarpal
HP:0009060Scapular muscle atrophy
HP:0009064Generalized lipodystrophy
HP:0009062Infantile axial hypotonia
HP:0010040Aplasia of the 3rd metacarpal
HP:0010048Aplasia of metacarpal bones
HP:0009063Progressive distal muscle weakness
HP:0010041Short 3rd metacarpal
HP:0010039Aplasia/Hypoplasia of the 3rd metacarpal
http://purl.obolibrary.org/obo/UBERON_0034719lip taste bud
HP:0009058Increased muscle lipid content
HP:0009055Generalized limb muscle atrophy
HP:0009056Loss of subcutaneous adipose tissue from upper limbs
http://purl.obolibrary.org/obo/UBERON_0034715pineal tract
http://purl.obolibrary.org/obo/UBERON_0034714epiphyseal tract
http://purl.obolibrary.org/obo/CHEBI_172587H-purine
HP:0009059Congenital generalized lipodystrophy
http://purl.obolibrary.org/obo/UBERON_0034717integumental taste bud
http://purl.obolibrary.org/obo/UBERON_0034711cortical preplate
http://purl.obolibrary.org/obo/UBERON_0034710spinal cord ventricular layer
http://purl.obolibrary.org/obo/UBERON_0007135neural keel
HP:0010059Broad hallux phalanx
HP:0009071Inflammatory myopathy
HP:0009072Decreased Achilles reflex
HP:0009073Progressive proximal muscle weakness
http://purl.obolibrary.org/obo/UBERON_0034708cerebellum marginal layer
HP:0009069Lethal infantile mitochondrial myopathy
http://purl.obolibrary.org/obo/UBERON_0007142left internal carotid artery
HP:0009067Progressive spinal muscular atrophy
http://purl.obolibrary.org/obo/UBERON_0034709hindbrain marginal layer
http://purl.obolibrary.org/obo/UBERON_0007147lumen of midgut
http://purl.obolibrary.org/obo/UBERON_0007148lumen of hindgut
http://purl.obolibrary.org/obo/UBERON_0007143right internal carotid artery
http://purl.obolibrary.org/obo/UBERON_0007144embryonic post-anal tail
HP:0010065Triangular shaped phalanges of the hallux
HP:0010068Broad first metatarsal
HP:0010069Bullet-shaped 1st metatarsal
http://www.informatics.jax.org/marker/MGI:95500Fcgr3 (mouse)
HP:0010060Bullet-shaped hallux phalanx
HP:0009087Posteriorly placed tongue
HP:0010061Curved hallux phalanx
HP:0010062Osteolytic defects of the phalanges of the hallux
HP:0009084Midline notch of upper alveolar ridge
HP:0010063Patchy sclerosis of hallux phalanx
HP:0100930Sclerosis of hallux phalanx
HP:0009077Weakness of long finger extensor muscles
http://purl.obolibrary.org/obo/CHEBI_32879propane
http://purl.obolibrary.org/obo/UBERON_0007151mitral valve leaflet
http://purl.obolibrary.org/obo/CHEBI_32872prolinium
http://purl.obolibrary.org/obo/UBERON_0007158lumen of anal canal
http://purl.obolibrary.org/obo/CHEBI_32871prolinate
http://purl.obolibrary.org/obo/UBERON_0007159lumen of colon
http://purl.obolibrary.org/obo/UBERON_0007156inferior thyroid vein
HP:0000678Dental crowding
HP:0000679Taurodontia
HP:0012656Reduced CSF dopamine level
HP:0012655Elevated CSF dopamine level
HP:0012654Abnormal CSF dopamine level
HP:0012653Status asthmaticus
HP:0012652Exercise-induced asthma
HP:0012651Abasia
http://www.informatics.jax.org/marker/MGI:104768Gast (mouse)
HP:0009002Loss of truncal subcutaneous adipose tissue
HP:0009003Increased subcutaneous truncal adipose tissue
HP:0012659Prefrontal hypometabolism in FDG PET
HP:0009007Biceps hypoplasia
HP:0009005Weakness of the intrinsic hand muscles
http://purl.obolibrary.org/obo/UBERON_0034766glabella region
http://purl.obolibrary.org/obo/UBERON_0009744lymph node medullary sinus
http://purl.obolibrary.org/obo/UBERON_0034765glabella skin
HP:0000677Oligodontia
http://purl.obolibrary.org/obo/UBERON_0009745lymph node medullary cord
HP:0000675Macrodontia of permanent maxillary central incisor
http://purl.obolibrary.org/obo/UBERON_0034762areolar sweat gland
HP:0000670Carious teeth
http://purl.obolibrary.org/obo/UBERON_0034763hindbrain commissure
http://purl.obolibrary.org/obo/UBERON_0009758abdominal ganglion
http://purl.obolibrary.org/obo/UBERON_0007134trunk ganglion
HP:0012667Regional left ventricular wall motion abnormality
HP:0012666Severely reduced ejection fraction
HP:0012665Moderately reduced ejection fraction
HP:0012663Mildly reduced ejection fraction
HP:0012664Reduced ejection fraction
HP:0009020Exercise-induced muscle fatigue
HP:0012662Parietal hypometabolism in FDG PET
HP:0012661Hypothalamic hypometabolism in FDG PET
HP:0012660Thalamic hypometabolism in FDG PET
HP:0012658Abnormal brain FDG positron emission tomography
HP:0012657Abnormal brain positron emission tomography
HP:0009013Congenital absence of gluteal muscles
http://purl.obolibrary.org/obo/UBERON_0010747body of ilium
HP:0000680Delayed eruption of primary teeth
http://purl.obolibrary.org/obo/UBERON_0010746iliac blade
HP:0009011Hypoplasia of serratus anterior muscle
http://purl.obolibrary.org/obo/UBERON_0010745sacral vertebra cartilage element
HP:0009017Loss of gluteal subcutaneous adipose tissue
HP:0012669Carotid sinus syncope
HP:0012668Vasovagal syncope
HP:0009019Progressive loss of facial adipose tissue
HP:0000292Loss of facial adipose tissue
http://purl.obolibrary.org/obo/PR_P25918B-lymphocyte antigen CD19 (mouse)
http://purl.obolibrary.org/obo/UBERON_0010744sacral vertebra pre-cartilage condensation
HP:0000683Grayish enamel
http://purl.obolibrary.org/obo/UBERON_0010743meningeal cluster
http://purl.obolibrary.org/obo/UBERON_0009752pancreas mesenchyme
HP:0012670Orthostatic syncope
HP:0010015Absent epiphysis of the 1st metacarpal
HP:0010016Bracket epiphysis of the 1st metacarpal
HP:0012678Iron accumulation in substantia nigra
HP:0012677Iron accumulation in globus pallidus
HP:0012676Copper accumulation in brain
HP:0012675Iron accumulation in brain
HP:0009031Amyotrophy of ankle musculature
HP:0012674Aplasia of the lower vagina
HP:0012673Aplasia of the upper vagina
http://www.informatics.jax.org/marker/MGI:95559Flt3 (mouse)
HP:0012672Akinetic mutism
HP:0012671Abulia
HP:0009028Generalized weakness of limb muscles
HP:0009026Hypoplasia of latissimus dorsi muscle
HP:0009027Foot dorsiflexor weakness
HP:0012679Widened interpedicular distance
HP:0010017Cone-shaped epiphysis of the 1st metacarpal
http://purl.obolibrary.org/obo/UBERON_0010751squamous part of temporal bone primordium
HP:0010018Enlarged epiphysis of the 1st metacarpal
HP:0010019Fragmentation of the epiphysis of the 1st metacarpal
HP:0000694Shell teeth
HP:0000695Natal tooth
http://purl.obolibrary.org/obo/UBERON_0010753lymph node secondary follicle
HP:0010020Irregular epiphysis of the 1st metacarpal
HP:0010021Ivory epiphysis of the 1st metacarpal
HP:0010022Pseudoepiphysis of the 1st metacarpal
HP:0010023Small epiphysis of the 1st metacarpal
HP:0010024Epiphyseal stippling of the first metacarpal
HP:0010025Triangular epiphysis of the 1st metacarpal
HP:0010014Abnormality of the epiphysis of the 1st metacarpal
HP:0010026Aplasia/Hypoplasia of the 1st metacarpal
http://purl.obolibrary.org/obo/UBERON_0007118umbilicus
HP:0010027Broad 1st metacarpal
http://purl.obolibrary.org/obo/UBERON_0007119neck of femur
HP:0012689Abnormal pineal melatonin secretion
HP:0012688Abnormality of pineal physiology
HP:0012687Agenesis of pineal gland
HP:0012686Increased pineal volume
HP:0012685Decreased pineal volume
HP:0009042Marked muscular hypertrophy
HP:0012684Abnormal pineal volume
http://purl.obolibrary.org/obo/CHEBI_17272propionate
HP:0012683Pineal cyst
HP:0012682Pineal gland calcification
HP:0012681Abnormality of pineal morphology
HP:0012680Abnormality of the pineal gland
http://purl.obolibrary.org/obo/UBERON_0034736coracoclavicular ligament
HP:0009037Segmental spinal muscular atrophy
HP:0010028Bullet-shaped 1st metacarpal
http://purl.obolibrary.org/obo/UBERON_0007116primary dentition
HP:0010029Curved 1st metacarpal
http://purl.obolibrary.org/obo/UBERON_0010760supraglenoid tubercle
http://purl.obolibrary.org/obo/UBERON_0009778pleural sac
http://purl.obolibrary.org/obo/UBERON_0034730olfactory tract linking bulb to ipsilateral dorsal telencephalon
http://purl.obolibrary.org/obo/UBERON_0009708dorsal pancreas
http://purl.obolibrary.org/obo/UBERON_0009709ventral pancreas
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3358ENPP3 (human)
http://purl.obolibrary.org/obo/UBERON_0009715stomodeal lumen
http://purl.obolibrary.org/obo/UBERON_0009714intermaxillary process
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3349ENG (human)
http://purl.obolibrary.org/obo/UBERON_0010703forelimb zeugopod skeleton
http://purl.obolibrary.org/obo/PR_O54990prominin-1 (mouse)
http://purl.obolibrary.org/obo/UBERON_0010708pectoral complex
http://purl.obolibrary.org/obo/UBERON_0009713endocardium of left ventricle
http://purl.obolibrary.org/obo/UBERON_0009712endocardium of right ventricle
http://purl.obolibrary.org/obo/UBERON_0010709pelvic complex
http://purl.obolibrary.org/obo/UBERON_0010707appendage girdle complex
http://purl.obolibrary.org/obo/UBERON_0010714iliac cartilage element
http://purl.obolibrary.org/obo/UBERON_0010718pubic cartilage element
http://purl.obolibrary.org/obo/UBERON_0009722entire pharyngeal arch endoderm
http://purl.obolibrary.org/obo/GO_0015893drug transport
http://purl.obolibrary.org/obo/UBERON_0010728sphenoid lesser wing pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010720hindlimb zeugopod skeleton
http://purl.obolibrary.org/obo/PR_Q8CHR6dihydropyrimidine dehydrogenase [NADP(+)] (mouse)
HP:0010191Symphalangism affecting the distal phalanges of the toes
http://purl.obolibrary.org/obo/CHEBI_32816pyruvic acid
http://purl.obolibrary.org/obo/CHEBI_17203L-proline
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3336ADGRE1 (human)
http://purl.obolibrary.org/obo/CHEBI_32837L-serinium
http://purl.obolibrary.org/obo/CHEBI_32841D-serinium
http://purl.obolibrary.org/obo/CHEBI_32846serinium
http://purl.obolibrary.org/obo/CHEBI_32840D-serinate
http://purl.obolibrary.org/obo/PR_P49715CCAAT/enhancer-binding protein alpha (human)
http://purl.obolibrary.org/obo/CHEBI_32833threoninium
http://purl.obolibrary.org/obo/CHEBI_32836L-serinate
http://purl.obolibrary.org/obo/CHEBI_32845serinate
http://purl.obolibrary.org/obo/CHEBI_32832threoninate
http://www.informatics.jax.org/marker/MGI:95392Eng (mouse)
HP:0000804Xanthine nephrolithiasis
HP:0000802Impotence
HP:0000800Cystic renal dysplasia
HP:0000807Glandular hypospadias
HP:0000808Penoscrotal hypospadias
HP:0000817Poor eye contact
HP:0000815Hypergonadotropic hypogonadism
HP:0000135Hypogonadism
HP:0000813Bicornuate uterus
HP:0000825Hyperinsulinemic hypoglycemia
http://purl.obolibrary.org/obo/CL_1001005glomerular capillary endothelial cell
http://purl.obolibrary.org/obo/CL_0002188glomerular endothelial cell
http://purl.obolibrary.org/obo/CL_0000666fenestrated cell
HP:0012807High insertion of columella
HP:0012806Proboscis
HP:0012805Iris transillumination defect
HP:0012803Anisometropia
HP:0012802Broad jaw
HP:0012801Narrow jaw
HP:0012800Accessory cranial suture
HP:0012809Narrow nasal base
http://purl.obolibrary.org/obo/CL_0000775neutrophil
http://purl.obolibrary.org/obo/CL_0000771eosinophil
http://purl.obolibrary.org/obo/CL_0000767basophil
http://purl.obolibrary.org/obo/CL_0000094granulocyte
http://purl.obolibrary.org/obo/CL_0000765erythroblast
http://purl.obolibrary.org/obo/CL_0000762nucleated thrombocyte
http://purl.obolibrary.org/obo/CL_0000795CD8-positive, alpha-beta regulatory T cell
http://purl.obolibrary.org/obo/GO_00038684-hydroxyphenylpyruvate dioxygenase activity
http://purl.obolibrary.org/obo/CL_1001045kidney cortex artery cell
http://purl.obolibrary.org/obo/CL_0000783multinucleated phagocyte
http://purl.obolibrary.org/obo/GO_0003857(24R, 25R) 3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestanoyl-CoA is oxidized to 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-one-CoA
http://purl.obolibrary.org/obo/CL_0000792CD4-positive, CD25-positive, alpha-beta regulatory T cell
http://purl.obolibrary.org/obo/CL_1001052kidney cortex vein cell
HP:0000757Lack of insight
http://purl.obolibrary.org/obo/PATO_0001469curved ventral
HP:0000758Impaired use of nonverbal behaviors
HP:0000756Agoraphobia
HP:0012731Ectopic anterior pituitary gland
http://purl.obolibrary.org/obo/PATO_0001468curved dorsal
HP:0012730Aglossia
HP:0012739Agenesis of the small intestine
HP:0012738Agenesis of canine
HP:0012737Small intestinal polyp
HP:0012736Profound global developmental delay
HP:0012734Ketotic hypoglycemia
HP:0000753Autism with high cognitive abilities
HP:0000751Personality changes
http://purl.obolibrary.org/obo/UBERON_0034670palatal taste bud
http://purl.obolibrary.org/obo/UBERON_0034722mouth roof taste bud
HP:0012744Femoral aplasia
HP:0012743Abdominal obesity
HP:0012742Thin fingernail
HP:0012741Unilateral cryptorchidism
http://www.informatics.jax.org/marker/MGI:104616Ccr3 (mouse)
http://purl.obolibrary.org/obo/PATO_0001450edematous
http://purl.obolibrary.org/obo/PATO_0001453detached from
http://purl.obolibrary.org/obo/UBERON_0007098mandibular neural crest
HP:0012749Focal T2 hypointense brainstem lesion
HP:0012748Focal T2 hyperintense brainstem lesion
HP:0012746Thin toenail
http://purl.obolibrary.org/obo/UBERON_0007099hyoid neural crest
HP:0000778Hypoplasia of the thymus
HP:0012755Enlarged brainstem
HP:0012754CNS hypermyelination
HP:0012753T2 hypointense basal ganglia
HP:0012752Focal T2 hypointense basal ganglia lesion
HP:0012750T2 hypointense brainstem
HP:0012747Abnormal brainstem MRI signal intensity
http://purl.obolibrary.org/obo/PATO_0001483aplastic
HP:0009101Submucous cleft lip
HP:0009102Anterior open-bite malocclusion
HP:0000689Dental malocclusion
HP:0009100Thick anterior alveolar ridges
HP:0009085Alveolar ridge overgrowth
HP:0012756CSF polymorphonuclear pleocytosis
HP:0009109Denervation of the diaphragm
HP:0000774Narrow chest
HP:0000771Gynecomastia
HP:0010100Complete duplication of hallux phalanx
HP:0010101Partial duplication of the phalanges of the hallux
HP:0010066Duplication of phalanx of hallux
HP:0010102Aplasia of the distal phalanx of the hallux
HP:0010103Short distal phalanx of hallux
HP:0010076Aplasia/Hypoplasia of the distal phalanx of the hallux
HP:0010104Absent first metatarsal
HP:0010067Aplasia/hypoplasia of the 1st metatarsal
HP:0012766Widened cerebral subarachnoid space
http://purl.obolibrary.org/obo/PATO_0001477retracted
HP:0012765Widened cerebellar subarachnoid space
HP:0012764Orthopnea
HP:0012763Paroxysmal dyspnea
http://purl.obolibrary.org/obo/CHEBI_17196L-asparagine
http://purl.obolibrary.org/obo/PATO_0001473duplicated
HP:0012761Absent mastoid
http://purl.obolibrary.org/obo/PATO_0001472decreased depth
HP:0012760Impaired social reciprocity
http://purl.obolibrary.org/obo/PATO_0001474anteverted
HP:0009112Aplasia of the left hemidiaphragm
HP:0009110Diaphragmatic eventration
http://purl.obolibrary.org/obo/PATO_0001482prominent
HP:0012768Neonatal asphyxia
HP:0002643Neonatal respiratory distress
HP:0000786Primary amenorrhea
HP:0010105Short first metatarsal
HP:0010106Aplasia of the proximal phalanx of the hallux
HP:0010107Short proximal phalanx of hallux
HP:0010085Aplasia/Hypoplasia of the proximal phalanx of the hallux
HP:0009119Aplasia/Hypoplasia of the frontal sinuses
HP:0000717Autism
http://purl.obolibrary.org/obo/CL_0000811CD8-positive, alpha-beta thymocyte
http://purl.obolibrary.org/obo/CL_0000810CD4-positive, alpha-beta thymocyte
HP:0000716Depressivity
HP:0000713Agitation
http://purl.obolibrary.org/obo/UBERON_0010690manual digit 1 epithelium
http://purl.obolibrary.org/obo/UBERON_0005227manual digit epithelium
HP:0000712Emotional lability
http://purl.obolibrary.org/obo/CL_0000817precursor B cell
http://purl.obolibrary.org/obo/CL_0000815regulatory T cell
http://purl.obolibrary.org/obo/UBERON_0010696skeleton of pedal acropodium
HP:0000710Hyperorality
http://purl.obolibrary.org/obo/UBERON_0010693pedal digit 1 epithelium
http://purl.obolibrary.org/obo/UBERON_0005226pedal digit epithelium
HP:0000728Impaired ability to form peer relationships
HP:0000727Frontal lobe dementia
HP:0000723Restrictive behavior
http://purl.obolibrary.org/obo/PATO_0001499spherical
http://purl.obolibrary.org/obo/CL_0000808DN4 thymocyte
http://purl.obolibrary.org/obo/CL_0000807DN3 thymocyte
http://purl.obolibrary.org/obo/CL_0000806DN2 thymocyte
http://purl.obolibrary.org/obo/CL_0000805immature single positive thymocyte
http://purl.obolibrary.org/obo/PATO_0001495notched
HP:0012708Reduced brain N-acetyl aspartate level by MRS
HP:0012707Elevated brain lactate level by MRS
HP:0012706Elevated brain choline level by MRS
HP:0012704Widened subarachnoid space
HP:0012702Tenesmus
HP:0012701Bowel urgency
http://purl.obolibrary.org/obo/CL_0000809double-positive, alpha-beta thymocyte
http://purl.obolibrary.org/obo/CL_0000790immature alpha-beta T cell
HP:0000720Mood swings
HP:0000721Lack of spontaneous play
HP:0012709Abnormal brain choline/creatine ratio by MRS
HP:0000737Irritability
http://purl.obolibrary.org/obo/CL_0000831mast cell progenitor
HP:0012711Delayed ossification of vertebral epiphysis
HP:0012710Ingrown nail
http://purl.obolibrary.org/obo/CL_0000837hematopoietic multipotent progenitor cell
HP:0012717Severe conductive hearing impairment
HP:0012716Moderate conductive hearing impairment
HP:0000732Inflexible adherence to routines or rituals
HP:0000749Paroxysmal bursts of laughter
HP:0000748Inappropriate laughter
HP:0000744Low frustration tolerance
HP:0012721Venous malformation
http://purl.obolibrary.org/obo/CL_0000829basophilic myeloblast
http://purl.obolibrary.org/obo/CL_0000835myeloblast
http://purl.obolibrary.org/obo/CL_0002191granulocytopoietic cell
http://purl.obolibrary.org/obo/CL_0000828thromboblast
http://purl.obolibrary.org/obo/CL_0000827pro-T cell
http://purl.obolibrary.org/obo/CL_0000826pro-B cell
http://purl.obolibrary.org/obo/CL_0000825pro-NK cell
http://purl.obolibrary.org/obo/CL_0000838lymphoid lineage restricted progenitor cell
http://purl.obolibrary.org/obo/CL_0000823immature natural killer cell
http://purl.obolibrary.org/obo/CL_0000623natural killer cell
HP:0012729Saccular descending thoracic aortic aneurysm
HP:0012728Fusiform descending thoracic aortic aneurysm
HP:0004959Descending thoracic aorta aneurysm
HP:0012726Episodic hypokalemia
HP:0002900Hypokalemia
HP:0012724Upper eyelid edema
HP:0012723Sinoatrial block
HP:0000743Frontal release signs
HP:0000740Episodic paroxysmal anxiety
HP:0000739Anxiety
HP:0000741Apathy
HP:0010152Enlarged epiphysis of the 1st metatarsal
HP:0010153Fragmentation of the epiphysis of the 1st metatarsal
HP:0010154Irregular epiphysis of the 1st metatarsal
HP:0010155Ivory epiphysis of the 1st metatarsal
HP:0010156Pseudoepiphysis of the 1st metatarsal
HP:0010157Small epiphysis of the 1st metatarsal
HP:0010158Stippling of the epiphysis of the 1st metatarsal
HP:0010159Triangular epiphysis of the 1st metatarsal
HP:0009170Osteolytic defects of the middle phalanx of the 5th finger
HP:0009171Triangular epiphyses of the metacarpals
http://purl.obolibrary.org/obo/CHEBI_17120hexanoate
HP:0009175Patchy sclerosis of the middle phalanx of the 5th finger
HP:0100907Sclerosis of the middle phalanx of the 5th finger
HP:0010150Bracket epiphysis of the 1st metatarsal
HP:0009173Curved middle phalanx of the 5th finger
HP:0010151Cone-shaped epiphysis of the 1st metatarsal
HP:0009167Irregular epiphysis of the distal phalanx of the 5th finger
HP:0009168Bullet-shaped middle phalanx of the 5th finger
HP:0009165Stippling of the epiphysis of the distal phalanx of the 5th finger
HP:0009166Fragmentation of the epiphysis of the distal phalanx of the 5th finger
http://purl.obolibrary.org/obo/CHEBI_17126carnitine
HP:0009169Broad middle phalanx of the 5th finger
http://purl.obolibrary.org/obo/UBERON_0009669embryonic cloacal lumen
http://purl.obolibrary.org/obo/UBERON_0007005cardiogenic splanchnic mesoderm
http://purl.obolibrary.org/obo/UBERON_0009668ventral mesentery
http://purl.obolibrary.org/obo/UBERON_0009664gut mesentery
http://purl.obolibrary.org/obo/PR_P01831Thy-1 membrane glycoprotein (mouse)
HP:0009180Ulnar deviation of the 5th finger
HP:0009185Contracture of the proximal interphalangeal joint of the 5th finger
http://purl.obolibrary.org/obo/CHEBI_32728tryptophanium
http://purl.obolibrary.org/obo/CHEBI_32727tryptophanate
HP:0009186Contracture of the metacarpophalangeal joint of the 5th finger
HP:0009184Contracture of the distal interphalangeal joint of the 5th finger
HP:0009183Joint contracture of the 5th finger
http://purl.obolibrary.org/obo/UBERON_0009670rectal lumen
http://purl.obolibrary.org/obo/UBERON_0007010cleaving embryo
HP:0009177Proximal/middle symphalangism of 5th finger
http://purl.obolibrary.org/obo/CHEBI_17137hydrogensulfite
http://purl.obolibrary.org/obo/UBERON_0009679set of lower jaw teeth
http://purl.obolibrary.org/obo/UBERON_0009676early telencephalic vesicle
http://purl.obolibrary.org/obo/CARO_0000007immaterial anatomical entity
http://purl.obolibrary.org/obo/PATO_0001408ciliatedness
http://purl.obolibrary.org/obo/CHEBI_78121fatty acid anion 14:0
http://purl.obolibrary.org/obo/PATO_0001407mononucleate
http://www.informatics.jax.org/marker/MGI:104663Lep (mouse)
http://purl.obolibrary.org/obo/PATO_0001406binucleate
http://purl.obolibrary.org/obo/PATO_0001405anucleate
http://purl.obolibrary.org/obo/PATO_0001400unipotent
HP:0009190Irregular epiphyses of the metacarpals
http://purl.obolibrary.org/obo/PATO_0001402multipotent
HP:0009191Ivory epiphyses of the metacarpals
http://purl.obolibrary.org/obo/PATO_0001401oligopotent
http://purl.obolibrary.org/obo/PATO_0001397cellular potency
HP:0009196Absent metacarpal epiphyses
HP:0009197Bracket epiphysis of the proximal phalanx of the 5th finger
HP:0009194Small epiphyses of the metacarpals
HP:0009195Epiphyseal stippling of the metacarpals
HP:0009189Fragmentation of the metacarpal epiphyses
http://purl.obolibrary.org/obo/UBERON_0009680set of upper jaw teeth
http://purl.obolibrary.org/obo/UBERON_0009678tooth row
http://purl.obolibrary.org/obo/UBERON_0034926anatomical row
http://purl.obolibrary.org/obo/UBERON_0007021sexually immature organism
HP:0009187Bracket epiphysis of the distal phalanx of the 5th finger
HP:0009188Pseudoepiphysis of the distal phalanx of the 5th finger
http://purl.obolibrary.org/obo/UBERON_0010679manual digit 5 phalanx cartilage element
http://purl.obolibrary.org/obo/UBERON_0007026presumptive gut
http://purl.obolibrary.org/obo/UBERON_0010678manual digit 4 phalanx cartilage element
http://purl.obolibrary.org/obo/UBERON_0010677manual digit 3 phalanx cartilage element
http://purl.obolibrary.org/obo/UBERON_0010676manual digit 2 phalanx cartilage element
http://purl.obolibrary.org/obo/UBERON_0010675manual digit 1 phalanx cartilage element
http://purl.obolibrary.org/obo/UBERON_0010681pedal digit 2 phalanx cartilage element
http://purl.obolibrary.org/obo/UBERON_0010680pedal digit 1 phalanx cartilage element
http://purl.obolibrary.org/obo/CHEBI_78113fatty acid anion 3:0
http://purl.obolibrary.org/obo/CHEBI_29103potassium(1+)
http://purl.obolibrary.org/obo/CHEBI_37247elemental potassium
http://purl.obolibrary.org/obo/CHEBI_78116fatty acid anion 6:0
http://purl.obolibrary.org/obo/UBERON_0009692lumen of pharyngotympanic tube
HP:0009199Irregular epiphysis of the proximal phalanx of the 5th finger
http://purl.obolibrary.org/obo/CHEBI_17115L-serine
http://purl.obolibrary.org/obo/CHEBI_29101sodium(1+)
http://purl.obolibrary.org/obo/CHEBI_37246elemental sodium
http://purl.obolibrary.org/obo/CHEBI_17113erythritol
http://purl.obolibrary.org/obo/UBERON_0010684pedal digit 5 phalanx cartilage element
http://purl.obolibrary.org/obo/UBERON_0010683pedal digit 4 phalanx cartilage element
http://purl.obolibrary.org/obo/UBERON_0010682pedal digit 3 phalanx cartilage element
http://purl.obolibrary.org/obo/UBERON_0010685pedal digit phalanx cartilage element
http://purl.obolibrary.org/obo/UBERON_0009695epithelium of laryngopharynx
http://purl.obolibrary.org/obo/UBERON_0010688skeleton of manual acropodium
http://purl.obolibrary.org/obo/UBERON_0010686manual digit phalanx cartilage element
http://purl.obolibrary.org/obo/UBERON_0010701phalanx cartilage element
HP:0010110Aplasia of the phalanges of the hallux
HP:0010111Short phalanx of hallux
HP:0010058Aplasia/Hypoplasia of the phalanges of the hallux
HP:0010109Short hallux
HP:0000799Renal steatosis
HP:0012775Stellate iris
HP:0012774Increased upper to lower segment ratio
HP:0012773Reduced upper to lower segment ratio
HP:0012772Abnormal upper to lower segment ratio
HP:0012771Increased arm span
HP:0012770Reduced arm span
HP:0012769Abnormal arm span
http://purl.obolibrary.org/obo/CHEBI_32786tyrosinium
http://purl.obolibrary.org/obo/CHEBI_32785tyrosinate(2-)
HP:0012779Transient hearing impairment
HP:0012778Retinal astrocytic hamartoma
http://purl.obolibrary.org/obo/UBERON_0009625sacral nerve
http://purl.obolibrary.org/obo/CHEBI_32784tyrosinate(1-)
http://purl.obolibrary.org/obo/UBERON_0009624lumbar nerve
HP:0000793Membranoproliferative glomerulonephritis
HP:0000794IgA deposition in the glomerulus
http://purl.obolibrary.org/obo/UBERON_0009621tail somite
http://purl.obolibrary.org/obo/UBERON_0009638orbitosphenoid ossification center
http://purl.obolibrary.org/obo/UBERON_0009639body of sphenoid
HP:0012788Reticulate pigmentation of oral mucosa
HP:0012787Recurrent pyelonephritis
HP:0012330Pyelonephritis
HP:0012786Recurrent cystitis
HP:0000010Recurrent urinary tract infections
HP:0012784Perinephritis
HP:0012783Intralobar nephrogenic rest
HP:0012782Perilobar nephrogenic rest
HP:0100880Nephrogenic rest
HP:0012781Mid-frequency hearing loss
HP:0012789Hypoplasia of the calcaneus
HP:0010127Absent epiphysis of the proximal phalanx of the hallux
HP:0010128Bracket epiphysis of the proximal phalanx of the hallux
HP:0010129Cone-shaped epiphysis of the proximal phalanx of the hallux
http://purl.obolibrary.org/obo/UBERON_0009636prechordal cartilage
HP:0010130Enlarged epiphysis of the proximal phalanx of the hallux
HP:0010131Fragmentation of the epiphysis of the proximal phalanx of the hallux
HP:0012790Abnormal intramembranous ossification
HP:0010132Irregular epiphysis of the proximal phalanx of the hallux
HP:0010133Ivory epiphysis of the proximal phalanx of the hallux
http://purl.obolibrary.org/obo/GO_0086103G protein-coupled receptor signaling pathway involved in heart process
HP:0010134Pseudoepiphysis of the proximal phalanx of the hallux
HP:0010135Small epiphysis of the proximal phalanx of the hallux
http://purl.obolibrary.org/obo/PATO_0001447calcified
http://purl.obolibrary.org/obo/UBERON_0009648eyelid subcutaneous connective tissue
HP:0010136Stippling of the epiphysis of the proximal phalanx of the hallux
http://purl.obolibrary.org/obo/PATO_0001449cartilaginous
HP:0010137Triangular epiphysis of the proximal phalanx of the hallux
HP:0010126Abnormality of the epiphysis of the proximal phalanx of the hallux
HP:0012799Unilateral facial palsy
http://purl.obolibrary.org/obo/PATO_0001444broken
HP:0012798Pulmonary lymphangiomyomatosis
http://purl.obolibrary.org/obo/CHEBI_42111(R)-lactic acid
HP:0012797Lymphatic vessel neoplasm
HP:0012794Periventricular white matter hypodensities
HP:0012793Kinked brainstem
http://purl.obolibrary.org/obo/PATO_0001442wholeness
HP:0012792Absent ossification of thoracic vertebral bodies
http://www.informatics.jax.org/marker/MGI:104618Ccr1 (mouse)
HP:0009149Triangular epiphysis of the distal phalanx of the 5th finger
HP:0009147Enlarged epiphysis of the distal phalanx of the 5th finger
HP:0009148Small epiphysis of the distal phalanx of the 5th finger
HP:0010138Absent epiphysis of the distal phalanx of the hallux
HP:0010113Absent hallux epiphysis
http://purl.obolibrary.org/obo/UBERON_0009644trachea non-cartilage connective tissue
HP:0010139Bracket epiphysis of the distal phalanx of the hallux
HP:0010114Bracket epiphyses of the hallux
http://purl.obolibrary.org/obo/UBERON_0009646lumbar sympathetic nerve trunk
http://purl.obolibrary.org/obo/UBERON_0009640hypophyseal cartilage
HP:0010141Enlarged epiphysis of the distal phalanx of the hallux
HP:0010116Enlarged epiphyses of the hallux
HP:0010142Fragmentation of the epiphysis of the distal phalanx of the hallux
HP:0010117Fragmentation of the epiphyses of the hallux
HP:0010143Irregular epiphysis of the distal phalanx of the hallux
HP:0010118Irregular epiphyses of the hallux
HP:0010144Ivory epiphysis of the distal phalanx of the hallux
HP:0010119Ivory epiphyses of the hallux
HP:0010145Pseudoepiphysis of the distal phalanx of the hallux
HP:0010120Pseudoepiphyses of the hallux
HP:0010146Small epiphysis of the distal phalanx of the hallux
HP:0010121Small epiphyses of the hallux
HP:0010147Stippling of the epiphysis of the distal phalanx of the hallux
HP:0010122Stippling of the epiphyses of the hallux
HP:0010148Triangular epiphysis of the distal phalanx of the hallux
HP:0010123Triangular epiphyses of the hallux
HP:0009160Absent epiphysis of the proximal phalanx of the 5th finger
http://purl.obolibrary.org/obo/PATO_0001435attachment quality
http://purl.obolibrary.org/obo/CHEBI_17151xylitol
HP:0009162Absent middle phalanx of 5th finger
HP:0010140Cone-shaped epiphysis of the distal phalanx of the hallux
HP:0010115Cone-shaped epiphyses of the hallux
HP:0010124Abnormality of the epiphysis of the distal phalanx of the hallux
HP:0010053Abnormality of the distal phalanx of the hallux
HP:0009157Ivory epiphysis of the proximal phalanx of the 5th finger
HP:0009154Triangular epiphysis of the proximal phalanx of the 5th finger
HP:0009155Cone-shaped epiphysis of the proximal phalanx of the 5th finger
http://purl.obolibrary.org/obo/CHEBI_32797(S)-2-hydroxyglutaric acid
http://purl.obolibrary.org/obo/CHEBI_32796(R)-2-hydroxyglutaric acid
http://purl.obolibrary.org/obo/CHEBI_170842-hydroxyglutaric acid
http://purl.obolibrary.org/obo/CHEBI_502632-hydroxydicarboxylic acid
HP:0009158Enlarged epiphysis of the proximal phalanx of the 5th finger
HP:0009159Small epiphysis of the proximal phalanx of the 5th finger
HP:0010149Absent epiphysis of the 1st metatarsal
HP:0010125Abnormality of the epiphysis of the 1st metatarsal
HP:0010056Abnormality of the epiphyses of the hallux
http://purl.obolibrary.org/obo/UBERON_0009652bronchus basement membrane
http://purl.obolibrary.org/obo/UBERON_0009651nephron tubule basement membrane
http://purl.obolibrary.org/obo/UBERON_0009653trachea basement membrane
http://purl.obolibrary.org/obo/CL_0000216Sertoli cell
http://purl.obolibrary.org/obo/CL_0002625seminiferous tubule epithelial cell
http://purl.obolibrary.org/obo/CL_0000511androgen binding protein secreting cell
http://purl.obolibrary.org/obo/CL_0000218myelinating Schwann cell
http://purl.obolibrary.org/obo/CL_0000217insulating cell
http://purl.obolibrary.org/obo/CL_0002573Schwann cell
http://purl.obolibrary.org/obo/CL_0000233platelet
http://purl.obolibrary.org/obo/CL_0000232erythrocyte
http://purl.obolibrary.org/obo/CL_0000081blood cell
http://purl.obolibrary.org/obo/UBERON_0009603right lung associated mesenchyme
http://purl.obolibrary.org/obo/UBERON_0009602left lung associated mesenchyme
http://purl.obolibrary.org/obo/CL_0000227binucleate cell
http://purl.obolibrary.org/obo/CL_0000225anucleate cell
http://purl.obolibrary.org/obo/UBERON_0009616presumptive midbrain
http://purl.obolibrary.org/obo/UBERON_0009615midbrain hindbrain boundary neural plate
http://purl.obolibrary.org/obo/CL_0000223endodermal cell
http://purl.obolibrary.org/obo/UBERON_0009618trunk paraxial mesoderm
http://purl.obolibrary.org/obo/UBERON_0009617head paraxial mesoderm
http://purl.obolibrary.org/obo/UBERON_0009611midbrain neural plate
http://purl.obolibrary.org/obo/UBERON_0009614hindbrain neural plate
http://purl.obolibrary.org/obo/UBERON_0009610forebrain neural plate
http://purl.obolibrary.org/obo/CHEBI_17568uracil
http://purl.obolibrary.org/obo/CHEBI_17578toluene
http://purl.obolibrary.org/obo/PATO_0001608patchy
http://purl.obolibrary.org/obo/PATO_0001602distended
http://purl.obolibrary.org/obo/PATO_0001604decreased life span
http://purl.obolibrary.org/obo/PATO_0001603increased life span
http://purl.obolibrary.org/obo/PATO_0001600posteriorly rotated
http://purl.obolibrary.org/obo/CHEBI_175495-aminolevulinic acid
http://purl.obolibrary.org/obo/CHEBI_17544hydrogencarbonate
http://purl.obolibrary.org/obo/PATO_0001609sparse
http://purl.obolibrary.org/obo/CHEBI_17553O-phosphoethanolamine
HP:0000915Pectus excavatum of inferior sternum
HP:0000767Pectus excavatum
HP:0000916Broad clavicles
HP:0000913Posterior rib fusion
HP:0000914Shield chest
HP:0000911Flat glenoid fossa
HP:0000912Congenital elevation of scapula
HP:0000910Wide-cupped costochondral junctions
HP:0000917Superior pectus carinatum
HP:0000918Scapular exostoses
http://purl.obolibrary.org/obo/GO_0001501skeletal system development
HP:0000922Posterior rib cupping
HP:0000923Beaded ribs
HP:0000920Enlargement of the costochondral junction
HP:0012905Euryblepharon
HP:0012904Cold-sensitive myotonia
HP:0012903Myotonia of the upper limb
HP:0012902Myotonia of the lower limb
HP:0012901Myotonia of the jaw
HP:0012900Myotonia of the face
HP:0000938Osteopenia
HP:0000933Posterior fossa cyst at the fourth ventricle
HP:0000931Thinning and bulging of the posterior fossa bones
HP:0000930Elevated imprint of the transverse sinuses
HP:0000943Dysostosis multiplex
HP:0000941Short diaphyses
http://purl.obolibrary.org/obo/PR_Q5UKY4cell surface glycoprotein CD200 receptor 3 (mouse)
http://purl.obolibrary.org/obo/GO_0001573ganglioside metabolic process
HP:0000905Progressive clavicular acroosteolysis
HP:0000902Rib fusion
HP:0000900Thickened ribs
HP:0000907Anterior rib cupping
http://purl.obolibrary.org/obo/GO_0001558regulation of cell growth
HP:000087811 pairs of ribs
HP:0000879Short sternum
HP:0000876Oligomenorrhea
HP:0000877Insulin-resistant diabetes mellitus at puberty
HP:0012854Midshaft hypospadias
HP:0012853Scrotal hypospadias
HP:0012852Hepatic bridging fibrosis
HP:0012851Colonic stenosis
HP:0012850Small intestinal dysmotility
HP:0009200Pseudoepiphysis of the proximal phalanx of the 5th finger
http://purl.obolibrary.org/obo/PATO_0001590overlap with
HP:0009201Stippling of the epiphysis of the proximal phalanx of the 5th finger
http://purl.obolibrary.org/obo/PATO_0001592increased curvature
HP:0012859Esophageal leukoplakia
HP:0009204Bracket epiphysis of the middle phalanx of the 5th finger
HP:0012858Decreased scrotal rugation
HP:0009205Cone-shaped epiphysis of the middle phalanx of the 5th finger
HP:0012857Increased scrotal rugation
HP:0009202Fragmentation of the epiphysis of the proximal phalanx of the 5th finger
HP:0009153Abnormality of the epiphysis of the proximal phalanx of the 5th finger
HP:0012856Abnormal scrotal rugation
HP:0009203Absent epiphysis of the middle phalanx of the 5th finger
HP:0012855Scrotal hyperpigmentation
HP:0009208Irregular epiphysis of the middle phalanx of the 5th finger
HP:0000875Episodic hypertension
HP:0009209Ivory epiphysis of the middle phalanx of the 5th finger
HP:0009206Enlarged epiphysis of the middle phalanx of the 5th finger
HP:0000872Hashimoto thyroiditis
HP:0100646Thyroiditis
HP:0009207Fragmentation of the epiphysis of the middle phalanx of the 5th finger
HP:0000870Increased circulating prolactin concentration
HP:0000871Panhypopituitarism
HP:0000888Horizontal ribs
http://purl.obolibrary.org/obo/PATO_0001576increased pressure
http://purl.obolibrary.org/obo/PATO_0001575decreased pressure
HP:0012861Ovotestis
http://purl.obolibrary.org/obo/PATO_0001571dilated
HP:0012860Testicular fibrosis
HP:0009211Small epiphysis of the middle phalanx of the 5th finger
HP:0009212Stippling of the epiphysis of the middle phalanx of the 5th finger
HP:0009210Pseudoepiphysis of the middle phalanx of the 5th finger
HP:0009215Bracket epiphysis of the middle phalanx of the 4th finger
HP:0012869Acephalic spermatozoa
HP:0009216Cone-shaped epiphysis of the middle phalanx of the 4th finger
HP:0009213Triangular epiphysis of the middle phalanx of the 5th finger
HP:0012867Sperm mid-piece anomaly
HP:0012866Sperm neck anomaly
HP:0009214Absent epiphysis of the middle phalanx of the 4th finger
HP:0009219Irregular epiphysis of the middle phalanx of the 4th finger
HP:0000885Broad ribs
HP:0000886Deformed rib cage
HP:0009217Enlarged epiphysis of the middle phalanx of the 4th finger
HP:0000883Thin ribs
HP:0009218Fragmentation of the epiphysis of the middle phalanx of the 4th finger
HP:0000884Prominent sternum
HP:0000768Pectus carinatum
HP:0010213Contracture of the tarsometatarsal joint of the hallux
HP:0010214Contracture of the interphalangeal joint of the hallux
HP:0012876Premature ejaculation
HP:0012873Absent vas deferens
HP:0012871Varicocele
HP:0009230Osteolytic defects of the proximal phalanx of the 5th finger
HP:0012870Vanishing testis
HP:0009222Small epiphysis of the middle phalanx of the 4th finger
HP:0009223Stippling of the epiphysis of the middle phalanx of the 4th finger
HP:0009220Ivory epiphysis of the middle phalanx of the 4th finger
HP:0009221Pseudoepiphysis of the middle phalanx of the 4th finger
HP:0009226Short proximal phalanx of the 5th finger
HP:0009227Broad proximal phalanx of the 5th finger
HP:0012879Anejaculation
HP:0009224Triangular epiphysis of the middle phalanx of the 4th finger
HP:0012878Retarded ejaculation
HP:0009225Aplasia of the proximal phalanx of the 5th finger
HP:0009192Aplasia/Hypoplasia of the proximal phalanx of the 5th finger
HP:0012877Retrograde ejaculation
HP:0012875Abnormal ejaculation
HP:0000896Rib exostoses
HP:0010215Contractures of the metatarsophalangeal joint of the hallux
HP:0010212Flexion contracture of the hallux
HP:0000897Rachitic rosary
HP:0009228Bullet-shaped proximal phalanx of the 5th finger
HP:0009229Curved proximal phalanx of the 5th finger
HP:0000895Lateral clavicle hook
HP:0000892Bifid ribs
HP:0010219Structural foot deformity
HP:0000893Bulging of the costochondral junction
HP:0000890Long clavicles
HP:0000891Cervical ribs
HP:0010223Pseudoepiphysis of the 3rd metacarpal
HP:0010222Abnormality of the epiphysis of the 3rd metacarpal
HP:0010225Pseudoepiphysis of the 4th metacarpal
HP:0010224Abnormality of the epiphysis of the 4th metacarpal
HP:0012887Ovarian serous cystadenoma
HP:0012886Hemorrhagic ovarian cyst
http://purl.obolibrary.org/obo/PATO_0001597everted
HP:0012885Fallopian tube duplication
HP:0012884Fallopian tube torsion
HP:0009240Broad distal phalanx of the 5th finger
HP:0012883Fallopian tube cyst
HP:0012882Hyperplastic labia majora
http://purl.obolibrary.org/obo/PATO_0001593decreased curvature
HP:0009241Bullet-shaped distal phalanx of the 5th finger
http://purl.obolibrary.org/obo/PATO_0001596increased depth
http://purl.obolibrary.org/obo/PATO_0001595depth
HP:0009234Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal
HP:0009231Patchy sclerosis of the proximal phalanx of the 5th finger
HP:0100911Sclerosis of the proximal phalanx of the 5th finger
HP:0009232Symphalangism affecting the proximal phalanx of the 5th finger
HP:0012889Cervical endometriosis
HP:0009236Rhomboid or triangular shaped 5th finger proximal phalanx
HP:0009233Triangular shaped proximal phalanx of the 5th finger
HP:0010227Pseudoepiphysis of the 5th metacarpal
HP:0010226Abnormality of the epiphysis of the 5th metacarpal
HP:0000839Pituitary dwarfism
http://purl.obolibrary.org/obo/UBERON_0010571manual digit 2 metacarpus cartilage element
http://purl.obolibrary.org/obo/UBERON_0010570manual digit 1 metacarpus cartilage element
HP:0000832Primary hypothyroidism
HP:0012810Wide nasal base
HP:0012808Abnormal nasal base
HP:0012818Biventricular noncompaction cardiomyopathy
http://purl.obolibrary.org/obo/UBERON_0009581midbrain mantle layer
HP:0012816Right ventricular noncompaction cardiomyopathy
HP:0012815Hypoplastic female external genitalia
http://purl.obolibrary.org/obo/UBERON_0009583spinal cord mantle layer
HP:0012814Bilateral breast hypoplasia
HP:0012813Unilateral breast hypoplasia
http://purl.obolibrary.org/obo/UBERON_0009580diencephalon mantle layer
HP:0012811Wide nasal ridge
http://purl.obolibrary.org/obo/UBERON_0010575manual digit 1 phalanx pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010574manual digit 5 metacarpus cartilage element
http://purl.obolibrary.org/obo/UBERON_0010573manual digit 4 metacarpus cartilage element
http://purl.obolibrary.org/obo/UBERON_0010572manual digit 3 metacarpus cartilage element
http://purl.obolibrary.org/obo/UBERON_0010699manual digit metacarpus cartilage element
http://purl.obolibrary.org/obo/UBERON_0010579manual digit 5 phalanx pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010578manual digit 4 phalanx pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010577manual digit 3 phalanx pre-cartilage condensation
HP:0012819Myocarditis
http://purl.obolibrary.org/obo/UBERON_0010576manual digit 2 phalanx pre-cartilage condensation
HP:0000848Increased circulating renin level
HP:0000845Growth hormone excess
http://purl.obolibrary.org/obo/UBERON_0010582pedal digit 3 phalanx pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010581pedal digit 2 phalanx pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010580pedal digit 1 phalanx pre-cartilage condensation
HP:0012821Unilateral vocal cord paresis
HP:0012820Bilateral vocal cord paralysis
HP:0012829Profound
HP:0012828Severe
HP:0012827Borderline
HP:0012826Moderate
HP:0012825Mild
HP:0012824Severity
HP:0012822Bilateral vocal cord paresis
HP:0000841Hyperactive renin-angiotensin system
http://purl.obolibrary.org/obo/UBERON_0010586manual digit phalanx pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010584pedal digit 5 phalanx pre-cartilage condensation
HP:0000840Adrenogenital syndrome
http://purl.obolibrary.org/obo/UBERON_0010583pedal digit 4 phalanx pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010585pedal digit phalanx pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010700phalanx pre-cartilage condensation
HP:0000858Irregular menstruation
HP:0012832Bilateral
HP:0012839Distal
HP:0012838Localized
HP:0012837Generalized
HP:0012835Left
HP:0012834Right
HP:0012833Unilateral
HP:0012831Laterality
HP:0000852Pseudohypoparathyroidism
HP:0000851Congenital hypothyroidism
HP:0000869Secondary amenorrhea
HP:0000141Amenorrhea
HP:0000867Secondary hyperparathyroidism
http://purl.obolibrary.org/obo/GO_1905951mitochondrion DNA recombination
HP:0000866Euthyroid multinodular goiter
HP:0012840Proximal
HP:0012849Small intestinal bleeding
HP:0002584Intestinal bleeding
HP:0012848Small intestinal stenosis
HP:0012847Epilepsia partialis continua
HP:0012846Multiple trichilemmomata
HP:0012845Single trichilemmoma
HP:0012844Trichilemmoma
HP:0000863Central diabetes insipidus
HP:0000860Parathyroid hypoplasia
http://purl.obolibrary.org/obo/PATO_0001507disrupted
http://purl.obolibrary.org/obo/UBERON_0009549hepatic sinusoid of right of lobe of liver
http://purl.obolibrary.org/obo/PATO_0001505separated from
HP:0009291Aplasia of the distal phalanx of the 4th finger
HP:0009292Broad distal phalanx of the 4th finger
http://purl.obolibrary.org/obo/CHEBI_17485homocystine
http://purl.obolibrary.org/obo/PATO_0001501immature
HP:0009290Short distal phalanx of the 4th finger
HP:0009295Short middle phalanx of the 4th finger
HP:0009296Bullet-shaped middle phalanx of the 4th finger
HP:0009293Broad middle phalanx of the 4th finger
HP:0009294Absent middle phalanx of 4th finger
HP:0009288Curved proximal phalanx of the 4th finger
HP:0009289Aplasia/Hypoplasia of the distal phalanx of the 4th finger
HP:0009286Curved distal phalanx of the 4th finger
http://purl.obolibrary.org/obo/UBERON_0010537mesonephric nephron progenitor
http://purl.obolibrary.org/obo/PR_Q60994adiponectin (mouse)
HP:0009287Curved middle phalanx of the 4th finger
http://purl.obolibrary.org/obo/UBERON_0010536nephron progenitor
http://purl.obolibrary.org/obo/UBERON_0010531metanephros induced blastemal cells
http://purl.obolibrary.org/obo/UBERON_0009548hepatic sinusoid of left of lobe of liver
http://purl.obolibrary.org/obo/UBERON_0010535primitive metanephric nephron
http://purl.obolibrary.org/obo/UBERON_0005106metanephric tubule
http://purl.obolibrary.org/obo/UBERON_0005108metanephric epithelium
http://purl.obolibrary.org/obo/UBERON_0010534primitive mesonephric nephron
http://purl.obolibrary.org/obo/UBERON_0010533metanephros cortex
http://purl.obolibrary.org/obo/UBERON_0010532primitive nephron
HP:0010284Intra-oral hyperpigmentation
HP:0010285Oral synechia
HP:0010287Abnormality of the submandibular glands
HP:0010288Abnormality of the sublingual glands
HP:0010281Cleft lower lip
HP:0010282Thin lower lip vermilion
HP:0000233Thin vermilion border
HP:0009299Aplasia/Hypoplasia of the middle phalanx of the 4th finger
http://purl.obolibrary.org/obo/UBERON_0010549pedal digit 3 metatarsal pre-cartilage condensation
HP:0009297Osteolytic defects of the middle phalanx of the 4th finger
http://purl.obolibrary.org/obo/UBERON_0010548pedal digit 2 metatarsal pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0009550endoderm of foregut-midgut junction
http://purl.obolibrary.org/obo/UBERON_0010547pedal digit 1 metatarsal pre-cartilage condensation
HP:0009298Aplasia of the proximal phalanx of the 4th finger
http://purl.obolibrary.org/obo/UBERON_0010541tarsus cartilage element
http://purl.obolibrary.org/obo/UBERON_0010540tarsus pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010695mesenchyme of tarsal region
http://purl.obolibrary.org/obo/UBERON_0009559metacarpal/tarsal-phalangeal joint
http://purl.obolibrary.org/obo/CL_0000295somatotropin secreting cell
http://purl.obolibrary.org/obo/UBERON_0009553distal segment of pedal digit
http://purl.obolibrary.org/obo/UBERON_0009552distal segment of manual digit
http://purl.obolibrary.org/obo/UBERON_0009551distal segment of digit
http://purl.obolibrary.org/obo/UBERON_0010545metatarsus skeleton
http://purl.obolibrary.org/obo/UBERON_0010544metacarpus skeleton
http://purl.obolibrary.org/obo/UBERON_0010546metapodial skeleton
http://purl.obolibrary.org/obo/UBERON_0010543acropodial skeleton
HP:0010295Aplasia/Hypoplasia of the tongue
HP:0010296Ankyloglossia
HP:0000190Abnormal oral frenulum morphology
HP:0010297Bifid tongue
HP:0010298Smooth tongue
HP:0010290Short hard palate
HP:0010291Prominent palatine ridges
HP:0010292Absent uvula
HP:0010294Palate fistula
http://purl.obolibrary.org/obo/UBERON_0010559pedal digit 3 metatarsal cartilage element
http://purl.obolibrary.org/obo/UBERON_0010558pedal digit 2 metatarsal cartilage element
http://purl.obolibrary.org/obo/UBERON_0009568trunk region of vertebral column
http://purl.obolibrary.org/obo/UBERON_0010551pedal digit 5 metatarsal pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010550pedal digit 4 metatarsal pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010687pedal digit metatarsal pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010557pedal digit 1 metatarsal cartilage element
http://purl.obolibrary.org/obo/PR_P01731T-cell surface glycoprotein CD8 alpha chain (mouse)
http://purl.obolibrary.org/obo/UBERON_0010560pedal digit 4 metatarsal cartilage element
http://purl.obolibrary.org/obo/PATO_0001512punctate
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5389IDS (human)
http://purl.obolibrary.org/obo/PATO_0001511non-functional
http://purl.obolibrary.org/obo/UBERON_0009570spinal cord sulcus limitans
http://purl.obolibrary.org/obo/UBERON_0009572lumen of central canal of spinal cord
http://purl.obolibrary.org/obo/UBERON_0010569manual digit 5 metacarpus pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010564manual digit 1 mesenchyme
http://purl.obolibrary.org/obo/UBERON_0005257manual digit mesenchyme
http://purl.obolibrary.org/obo/UBERON_0009578myelencephalon sulcus limitans
http://purl.obolibrary.org/obo/UBERON_0010562pedal digit 1 mesenchyme
http://purl.obolibrary.org/obo/UBERON_0005255pedal digit mesenchyme
http://purl.obolibrary.org/obo/UBERON_0010702digit mesenchyme
http://purl.obolibrary.org/obo/UBERON_0010561pedal digit 5 metatarsal cartilage element
http://purl.obolibrary.org/obo/UBERON_0010697pedal digit metatarsal cartilage element
http://purl.obolibrary.org/obo/UBERON_0010568manual digit 4 metacarpus pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010567manual digit 3 metacarpus pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0009577metencephalon sulcus limitans
http://purl.obolibrary.org/obo/UBERON_0010566manual digit 2 metacarpus pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0009576medulla oblongata sulcus limitans
http://purl.obolibrary.org/obo/UBERON_0005478sulcus limitans of neural tube
http://purl.obolibrary.org/obo/UBERON_0010565manual digit 1 metacarpus pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010698manual digit metacarpus pre-cartilage condensation
HP:0012890Posteriorly placed anus
http://purl.obolibrary.org/obo/UBERON_0009506mesenchyme of middle ear
http://purl.obolibrary.org/obo/UBERON_0009505mesenchyme of trachea
http://purl.obolibrary.org/obo/PATO_0001549increased sensitivity toward
http://purl.obolibrary.org/obo/PATO_0001548quality of a liquid
HP:0012898Abnormal lower-limb motor evoked potentials
HP:0012897Abnormal upper-limb motor evoked potentials
http://purl.obolibrary.org/obo/PATO_0001545inflexible
HP:0012896Abnormal motor evoked potentials
HP:0012895Scapular muscle hypertrophy
HP:0009251Bracket epiphysis of the distal phalanx of the 4th finger
HP:0012894Paraspinal muscle hypertrophy
HP:0009252Cone-shaped epiphysis of the distal phalanx of the 4th finger
HP:0012893Neck muscle hypertrophy
HP:0012892Facial muscle hypertrophy
HP:0009250Absent epiphysis of the distal phalanx of the 4th finger
HP:0012891High posterior hairline
HP:0009244Distal/middle symphalangism of 5th finger
HP:0009178Symphalangism of middle phalanx of 5th finger
HP:0009242Osteolytic defects of the distal phalanx of the 5th finger
HP:0009243Patchy sclerosis of the distal phalanx of the 5th finger
HP:0100903Sclerosis of the distal phalanx of the 5th finger
HP:0009246Aplasia of the distal phalanx of the 5th finger
HP:0009238Aplasia of the 5th finger
HP:0012899Handgrip myotonia
http://purl.obolibrary.org/obo/UBERON_0009503mesenchyme of hindgut
http://purl.obolibrary.org/obo/UBERON_0009500periotic mesenchyme
HP:0009262Bracket epiphysis of the proximal phalanx of the 4th finger
HP:0009263Cone-shaped epiphysis of the proximal phalanx of the 4th finger
HP:0009260Triangular epiphysis of the distal phalanx of the 4th finger
HP:0009261Absent epiphysis of the proximal phalanx of the 4th finger
HP:0009255Irregular epiphysis of the distal phalanx of the 4th finger
HP:0009256Ivory epiphysis of the distal phalanx of the 4th finger
HP:0009253Enlarged epiphysis of the distal phalanx of the 4th finger
HP:0009254Fragmentation of the epiphysis of the distal phalanx of the 4th finger
HP:0009259Stippling of the epiphysis of the distal phalanx of the 4th finger
HP:0009257Pseudoepiphysis of the distal phalanx of the 4th finger
HP:0009258Small epiphysis of the distal phalanx of the 4th finger
HP:0009249Abnormality of the epiphysis of the distal phalanx of the 4th finger
http://purl.obolibrary.org/obo/CHEBI_78444EC 3.1.1.1 (carboxylesterase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_76773EC 3.1.1.* (carboxylic ester hydrolase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_76760EC 3.1.* (ester hydrolase) inhibitor
HP:0009270Stippling of the epiphysis of the proximal phalanx of the 4th finger
HP:0009247Abnormality of the epiphysis of the middle phalanx of the 4th finger
http://purl.obolibrary.org/obo/PATO_0001561having extra processual parts
HP:0009271Triangular epiphysis of the proximal phalanx of the 4th finger
http://purl.obolibrary.org/obo/PATO_0001563increased mass
http://purl.obolibrary.org/obo/PATO_0001562decreased mass
HP:0009266Irregular epiphysis of the proximal phalanx of the 4th finger
HP:0009267Ivory epiphysis of the proximal phalanx of the 4th finger
HP:0009264Enlarged epiphysis of the proximal phalanx of the 4th finger
HP:0009265Fragmentation of the epiphysis of the proximal phalanx of the 4th finger
HP:0009268Pseudoepiphysis of the proximal phalanx of the 4th finger
HP:0009269Small epiphysis of the proximal phalanx of the 4th finger
HP:0009248Abnormality of the epiphysis of the proximal phalanx of the 4th finger
http://purl.obolibrary.org/obo/UBERON_0009522lateral lingual swelling epithelium
http://purl.obolibrary.org/obo/GO_1903380positive regulation of mitotic chromosome condensation
http://purl.obolibrary.org/obo/GO_0062033positive regulation of mitotic sister chromatid segregation
http://purl.obolibrary.org/obo/GO_1905821positive regulation of chromosome condensation
http://purl.obolibrary.org/obo/CHEBI_78433refrigerant
http://purl.obolibrary.org/obo/PATO_0001558lacking processual parts
http://purl.obolibrary.org/obo/PATO_0001564extra or missing processual parts
http://purl.obolibrary.org/obo/UBERON_0009539mesenchyme of submandibular gland primordium
http://purl.obolibrary.org/obo/UBERON_0009538mesenchyme of sublingual gland primordium
http://purl.obolibrary.org/obo/GO_1903379regulation of mitotic chromosome condensation
HP:0009281Aplasia of the 4th finger
http://purl.obolibrary.org/obo/CHEBI_42485formyl group
http://purl.obolibrary.org/obo/PATO_0001550decreased sensitivity toward
HP:0009285Curved phalanges of the 4th finger
http://purl.obolibrary.org/obo/PATO_0001552decreased sensitivity of a process
http://purl.obolibrary.org/obo/PATO_0001551increased sensitivity of a process
http://purl.obolibrary.org/obo/PATO_0001457sensitivity of a process
HP:0009277Contracture of the metacarpophalangeal joint of the 4th finger
http://purl.obolibrary.org/obo/UBERON_0010528pneumatic cavity of bone
HP:0009278Ulnar deviation of the 4th finger
http://purl.obolibrary.org/obo/UBERON_0010527cavity of bone organ
HP:0009275Contracture of the distal interphalangeal joint of the 4th finger
HP:0009276Contracture of the proximal interphalangeal joint of the 4th finger
HP:0009274Joint contracture of the 4th finger
HP:0009279Radial deviation of the 4th finger
http://purl.obolibrary.org/obo/UBERON_0009537vascular element of right lung
http://purl.obolibrary.org/obo/UBERON_0009536vascular element of left lung
http://purl.obolibrary.org/obo/CHEBI_17418valeric acid
http://purl.obolibrary.org/obo/CL_0000113mononuclear phagocyte
http://purl.obolibrary.org/obo/CL_0000518phagocyte (sensu Vertebrata)
http://purl.obolibrary.org/obo/CL_0000111peripheral neuron
http://purl.obolibrary.org/obo/PR_O54754aldehyde oxidase 1 (mouse)
http://purl.obolibrary.org/obo/CL_0000121Purkinje cell
http://purl.obolibrary.org/obo/CL_1001611cerebellar neuron
http://purl.obolibrary.org/obo/CL_0000117CNS neuron (sensu Vertebrata)
http://purl.obolibrary.org/obo/PATO_0001706behavioural inactive
http://purl.obolibrary.org/obo/PATO_0001701mature
http://purl.obolibrary.org/obo/CL_0000133neurectodermal cell
http://purl.obolibrary.org/obo/CL_0000221ectodermal cell
http://purl.obolibrary.org/obo/CL_0000129microglial cell
http://purl.obolibrary.org/obo/CL_0000878central nervous system macrophage
http://purl.obolibrary.org/obo/CL_0000864tissue-resident macrophage
http://purl.obolibrary.org/obo/CL_0000235macrophage
http://purl.obolibrary.org/obo/CL_0000234phagocyte
http://purl.obolibrary.org/obo/CL_0000127astrocyte
http://purl.obolibrary.org/obo/CHEBI_17453methylmalonate(2-)
http://purl.obolibrary.org/obo/PATO_0001716non-fragile
http://purl.obolibrary.org/obo/CL_0000149visual pigment cell
http://purl.obolibrary.org/obo/CL_0000147pigment cell
http://purl.obolibrary.org/obo/CL_0000145professional antigen presenting cell
http://purl.obolibrary.org/obo/CHEBI_30413heme
http://purl.obolibrary.org/obo/CHEBI_25216metalloporphyrin
http://purl.obolibrary.org/obo/CHEBI_30411cobalamin
http://purl.obolibrary.org/obo/GO_1903511orotic acid metabolic process
http://purl.obolibrary.org/obo/PR_P01590interleukin-2 receptor subunit alpha (mouse)
http://purl.obolibrary.org/obo/PR_P13595neural cell adhesion molecule 1 (mouse)
HP:0000999Pyoderma
HP:0010310Chylothorax
HP:0010312Asymmetry of the breasts
HP:0000997Axillary freckling
HP:0010313Breast hypertrophy
HP:0009321Absent epiphysis of the middle phalanx of the 3rd finger
HP:0009322Bracket epiphysis of the middle phalanx of the 3rd finger
HP:0009325Fragmentation of the epiphysis of the middle phalanx of the 3rd finger
HP:0009326Irregular epiphysis of the middle phalanx of the 3rd finger
HP:0009323Cone-shaped epiphysis of the middle phalanx of the 3rd finger
HP:0009324Enlarged epiphysis of the middle phalanx of the 3rd finger
HP:0009329Small epiphysis of the middle phalanx of the 3rd finger
HP:0010314Premature thelarche
HP:0000993Molluscoid pseudotumors
HP:0009327Ivory epiphysis of the middle phalanx of the 3rd finger
HP:0010316Ebstein anomaly of the tricuspid valve
HP:0009328Pseudoepiphysis of the middle phalanx of the 3rd finger
HP:0010317Scapular aplasia
http://purl.obolibrary.org/obo/PATO_0001697decreased photosensitivity
http://purl.obolibrary.org/obo/PATO_0001698increased photosensitivity
HP:0009340Irregular epiphysis of the distal phalanx of the 3rd finger
HP:0009330Stippling of the epiphysis of the middle phalanx of the 3rd finger
HP:0009331Triangular epiphysis of the middle phalanx of the 3rd finger
HP:0009336Bracket epiphysis of the distal phalanx of the 3rd finger
HP:0009337Cone-shaped epiphysis of the distal phalanx of the 3rd finger
HP:0009334Abnormality of the epiphysis of the middle phalanx of the 3rd finger
HP:0009335Absent epiphysis of the distal phalanx of the 3rd finger
HP:0009338Enlarged epiphysis of the distal phalanx of the 3rd finger
HP:0010328Polydactyly affecting the 2nd toe
HP:0009339Fragmentation of the epiphysis of the distal phalanx of the 3rd finger
HP:0010334Polydactyly affecting the 3rd toe
HP:0009350Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger
HP:0009351Irregular epiphysis of the proximal phalanx of the 3rd finger
HP:0009343Small epiphysis of the distal phalanx of the 3rd finger
HP:0009344Stippling of the epiphysis of the distal phalanx of the 3rd finger
HP:0009341Ivory epiphysis of the distal phalanx of the 3rd finger
HP:0009342Pseudoepiphysis of the distal phalanx of the 3rd finger
HP:0009347Bracket epiphysis of the proximal phalanx of the 3rd finger
HP:0009348Cone-shaped epiphysis of the proximal phalanx of the 3rd finger
HP:0009345Triangular epiphysis of the distal phalanx of the 3rd finger
HP:0009332Abnormality of the epiphysis of the distal phalanx of the 3rd finger
HP:0009346Absent epiphysis of the proximal phalanx of the 3rd finger
HP:0009349Enlarged epiphysis of the proximal phalanx of the 3rd finger
HP:0010340Polydactyly affecting the 4th toe
HP:0010112Mesoaxial foot polydactyly
HP:0009354Small epiphysis of the proximal phalanx of the 3rd finger
HP:0009355Stippling of the epiphysis of the proximal phalanx of the 3rd finger
HP:0009352Ivory epiphysis of the proximal phalanx of the 3rd finger
HP:0009353Pseudoepiphysis of the proximal phalanx of the 3rd finger
HP:0009356Triangular epiphysis of the proximal phalanx of the 3rd finger
HP:0009333Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
HP:0000958Dry skin
HP:0000956Acanthosis nigricans
HP:0000967Petechiae
HP:0000965Cutis marmorata
http://purl.obolibrary.org/obo/UBERON_0009472axilla
http://purl.obolibrary.org/obo/UBERON_0009471dorsum of tongue
http://purl.obolibrary.org/obo/UBERON_0009479ectoderm of buccopharyngeal membrane
HP:0000963Thin skin
HP:0000960Sacral dimple
http://purl.obolibrary.org/obo/UBERON_0009477associated mesenchyme of otic placode
HP:0000978Bruising susceptibility
HP:0000976Eczematoid dermatitis
http://purl.obolibrary.org/obo/UBERON_0009483mesentery of foregut-midgut junction
http://purl.obolibrary.org/obo/UBERON_0009482associated mesenchyme of foregut-midgut junction
HP:0009303Osteolytic defects of the distal phalanx of the 4th finger
HP:0009304Patchy sclerosis of the distal phalanx of the 4th finger
HP:0100902Sclerosis of the distal phalanx of the 4th finger
HP:0009301Short proximal phalanx of the 4th finger
HP:0009280Short 4th finger
HP:0009272Aplasia/Hypoplasia of the 4th finger
HP:0009300Aplasia/Hypoplasia of the proximal phalanx of the 4th finger
HP:0009302Bullet-shaped distal phalanx of the 4th finger
http://purl.obolibrary.org/obo/UBERON_0009480endoderm of buccopharyngeal membrane
HP:0009307Patchy sclerosis of the middle phalanx of the 4th finger
HP:0100906Sclerosis of the middle phalanx of the 4th finger
HP:0009305Distal/middle symphalangism of 4th finger
HP:0009306Triangular shaped distal phalanx of the 4th finger
HP:0000970Anhidrosis
HP:0009309Triangular shaped middle phalanx of the 4th finger
HP:0010300Abnormally low-pitched voice
HP:0009310Broad proximal phalanx of the 4th finger
HP:0009311Bullet-shaped proximal phalanx of the 4th finger
HP:0009315Triangular shaped proximal phalanx of the 4th finger
HP:0009312Osteolytic defects of the proximal phalanx of the 4th finger
HP:0009313Patchy sclerosis of the proximal phalanx of the 4th finger
HP:0100910Sclerosis of the proximal phalanx of the 4th finger
HP:0010304Spinal meningeal diverticulum
HP:0010305Absence of the sacrum
HP:0010306Short thorax
HP:0010308Asternia
HP:0010309Bifid sternum
http://purl.obolibrary.org/obo/PATO_0001628insufficient
http://purl.obolibrary.org/obo/PATO_0001627sufficient
HP:0010396Broad proximal phalanx of the 2nd toe
HP:0010397Bullet-shaped proximal phalanx of the 2nd toe
http://purl.obolibrary.org/obo/PATO_0001624decreased functionality
HP:0010398Curved proximal phalanx of the 2nd toe
http://purl.obolibrary.org/obo/PATO_0001623atrophied
HP:0010399Osteolytic defects of the proximal phalanx of the 2nd toe
HP:0010207Osteolytic defect of the proximal toe phalanx
http://purl.obolibrary.org/obo/PATO_0001626sufficiency
http://purl.obolibrary.org/obo/CL_0000178Leydig cell
http://purl.obolibrary.org/obo/PATO_0001625increased functionality
http://purl.obolibrary.org/obo/PATO_0001559having extra function
http://purl.obolibrary.org/obo/PATO_0001510functional
http://purl.obolibrary.org/obo/PATO_0001509functionality
http://purl.obolibrary.org/obo/CL_0000177testosterone secreting cell
http://purl.obolibrary.org/obo/CHEBI_17364D-aspartic acid
http://purl.obolibrary.org/obo/CHEBI_29337azanide
http://purl.obolibrary.org/obo/CHEBI_17368hypoxanthine
http://purl.obolibrary.org/obo/CL_0000182hepatocyte
http://purl.obolibrary.org/obo/CL_0000181metabolising cell
http://purl.obolibrary.org/obo/UBERON_0010412epididymal fat pad
http://purl.obolibrary.org/obo/UBERON_0010411retroperitoneal fat pad
http://purl.obolibrary.org/obo/PATO_0001619decreased tonicity
http://purl.obolibrary.org/obo/PATO_0001618increased tonicity
http://purl.obolibrary.org/obo/PATO_0001439tonicity
http://purl.obolibrary.org/obo/PATO_0001579contractility
http://purl.obolibrary.org/obo/CL_0000169type B pancreatic cell
http://purl.obolibrary.org/obo/CL_0000164enteroendocrine cell
http://purl.obolibrary.org/obo/CL_0000150glandular epithelial cell
http://purl.obolibrary.org/obo/CL_0000168insulin secreting cell
http://purl.obolibrary.org/obo/CL_0000154protein secreting cell
http://purl.obolibrary.org/obo/CL_0000167peptide hormone secreting cell
http://purl.obolibrary.org/obo/CHEBI_17376cystine
http://purl.obolibrary.org/obo/UBERON_0010427ciliary processes
http://purl.obolibrary.org/obo/UBERON_0010421spleen B cell corona
http://purl.obolibrary.org/obo/UBERON_0010420lymph node follicular corona
http://purl.obolibrary.org/obo/UBERON_0010755secondary follicle corona
http://purl.obolibrary.org/obo/CL_0000174steroid hormone secreting cell
http://purl.obolibrary.org/obo/CHEBI_329702-aminoethanesulfonate
http://purl.obolibrary.org/obo/CHEBI_620811,1-diunsubstituted alkanesulfonate
http://purl.obolibrary.org/obo/UBERON_0010424distal segment of rib
http://purl.obolibrary.org/obo/UBERON_0010423primary lymphoid nodule of tonsil
http://purl.obolibrary.org/obo/PATO_0001649curved lateral
http://purl.obolibrary.org/obo/PATO_0001646protruding out of
http://purl.obolibrary.org/obo/CHEBI_17347testosterone
http://purl.obolibrary.org/obo/CHEBI_91316(S)-methylsuccinic acid
http://purl.obolibrary.org/obo/CHEBI_91317(R)-methylsuccinic acid
http://purl.obolibrary.org/obo/CHEBI_913152-methylbutanedioic acid
http://purl.obolibrary.org/obo/CHEBI_29340hydridonitrate(2-)
http://purl.obolibrary.org/obo/CHEBI_17359sulfite
http://purl.obolibrary.org/obo/PATO_0001669increased susceptibility toward
HP:0009372Type A2 brachydactyly
HP:0009373Type C brachydactyly
HP:0009371Type A1 brachydactyly
http://purl.obolibrary.org/obo/CHEBI_30363isobutane
http://purl.obolibrary.org/obo/PATO_0001653aligned with
http://purl.obolibrary.org/obo/PATO_0001654misaligned with
http://purl.obolibrary.org/obo/PATO_0001652alignment
HP:0009383Bracket epiphyses of the 5th finger
HP:0009377Patchy sclerosis of 5th finger phalanx
HP:0009374Broad phalanges of the 5th finger
HP:0009375Bullet-shaped phalanges of the 5th finger
http://purl.obolibrary.org/obo/CHEBI_30356isobutyl group
HP:0009379Rhomboid or triangular shaped 5th finger distal phalanx
HP:0009245Triangular shaped distal phalanx of the 5th finger
http://purl.obolibrary.org/obo/CHEBI_30353isopropyl group
HP:0009390Small epiphyses of the 5th finger
HP:0009391Stippling of the epiphyses of the 5th finger
http://purl.obolibrary.org/obo/CARO_0010000multicellular anatomical structure
HP:0009394Bracket epiphyses of the 4th finger
HP:0009392Triangular epiphyses of the 5th finger
http://purl.obolibrary.org/obo/CHEBI_17381porphobilinogen
HP:0009393Absent epiphyses of the 4th finger
HP:0009387Irregular epiphyses of the 5th finger
HP:0009385Enlarged epiphyses of the 5th finger
HP:0009386Fragmentation of the epiphyses of the 5th finger
HP:0009389Pseudoepiphyses of the 5th finger
http://purl.obolibrary.org/obo/PATO_0001670decreased susceptibility toward
http://purl.obolibrary.org/obo/PATO_0001152susceptible toward
HP:0009398Irregular epiphyses of the 4th finger
HP:0009399Ivory epiphyses of the 4th finger
HP:0009396Enlarged epiphyses of the 4th finger
HP:0009397Fragmentation of the epiphyses of the 4th finger
http://purl.obolibrary.org/obo/UBERON_0010409ocular surface region
http://purl.obolibrary.org/obo/UBERON_0010408ocular angle artery
http://purl.obolibrary.org/obo/UBERON_0010402epidermis suprabasal layer
http://purl.obolibrary.org/obo/UBERON_0010400spleen trabecular vein
HP:0200148Abnormal liver function tests during pregnancy
http://purl.obolibrary.org/obo/CL_0000458serotonin secreting cell
HP:0200147Neuronal loss in basal ganglia
HP:0200141Small, conical teeth
HP:0200143Megaloblastic erythroid hyperplasia
HP:0012132Erythroid hyperplasia
HP:0012131Abnormal number of erythroid precursors
http://purl.obolibrary.org/obo/PR_Q9W735prominin-1-A (zebrafish)
HP:0200138Bilateral choanal atresia/stenosis
HP:0000452Choanal stenosis
HP:0200133Lumbosacral meningocele
HP:0200134Epileptic encephalopathy
HP:0200136Oral-pharyngeal dysphagia
http://purl.obolibrary.org/obo/PATO_0001802loose
http://purl.obolibrary.org/obo/PATO_0001801decreased water composition
http://purl.obolibrary.org/obo/PATO_0001800water composition
http://purl.obolibrary.org/obo/CHEBI_30745phenylacetic acid
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3012DPYD (human)
http://purl.obolibrary.org/obo/CL_0000484connective tissue type mast cell
http://purl.obolibrary.org/obo/CL_0000097mast cell
http://purl.obolibrary.org/obo/CL_0002274histamine secreting cell
http://purl.obolibrary.org/obo/CL_0000457biogenic amine secreting cell
HP:0200159Agenesis of primary mandibular lateral incisor
HP:0200158Agenesis of permanent mandibular lateral incisor
HP:0200151Cutaneous mastocytosis
HP:0200154Agenesis of mandibular lateral incisor
HP:0200150Increased serum bile acid concentration during pregnancy
HP:0012202Increased serum bile acid concentration
http://purl.obolibrary.org/obo/CHEBI_17755cystathionine
http://purl.obolibrary.org/obo/CHEBI_17754glycerol
http://purl.obolibrary.org/obo/CL_0000473defensive cell
http://purl.obolibrary.org/obo/CHEBI_17759cholesta-5,7-dien-3beta-ol
http://purl.obolibrary.org/obo/CHEBI_138131Delta(5),Delta(7)-sterol
http://purl.obolibrary.org/obo/PATO_0001826decreased wetness
http://purl.obolibrary.org/obo/PATO_0001825increased wetness
http://purl.obolibrary.org/obo/PATO_0001828male pseudohermaphrodite
http://purl.obolibrary.org/obo/PATO_0001821imperforate
http://purl.obolibrary.org/obo/PATO_0001824dry
http://purl.obolibrary.org/obo/PATO_0001823wet
http://purl.obolibrary.org/obo/PATO_0001822wetness
http://purl.obolibrary.org/obo/CHEBI_30768propionic acid
http://purl.obolibrary.org/obo/PATO_0001829female pseudohermaphrodite
http://purl.obolibrary.org/obo/PATO_0001827pseudohermaphrodite
http://purl.obolibrary.org/obo/PATO_0001817decreased fatigability
http://purl.obolibrary.org/obo/PATO_0001816increased fatigability
http://purl.obolibrary.org/obo/PATO_0001815fatigability
http://purl.obolibrary.org/obo/PATO_0001810wrinkled
http://purl.obolibrary.org/obo/CHEBI_30751formic acid
http://purl.obolibrary.org/obo/CL_0000492CD4-positive helper T cell
http://purl.obolibrary.org/obo/PATO_0001819atretic
http://purl.obolibrary.org/obo/PATO_0001818progressive
http://purl.obolibrary.org/obo/PATO_0001848asymmetrically curved
http://purl.obolibrary.org/obo/PATO_0001847constricted
http://purl.obolibrary.org/obo/PATO_0001845irregular rhythm
http://purl.obolibrary.org/obo/CL_1001319bladder cell
http://purl.obolibrary.org/obo/CHEBI_27136triol
http://purl.obolibrary.org/obo/CHEBI_29793hydridodioxygen(1+)
http://purl.obolibrary.org/obo/PATO_0001833decreased male fertility
http://purl.obolibrary.org/obo/PATO_0001832increased male fertility
http://purl.obolibrary.org/obo/PATO_0001835increased fertility
http://purl.obolibrary.org/obo/PATO_0001834decreased fertility
http://purl.obolibrary.org/obo/PATO_0001831increased female fertility
http://purl.obolibrary.org/obo/PATO_0001830decreased female fertility
http://purl.obolibrary.org/obo/CHEBI_17790methanol
http://purl.obolibrary.org/obo/CHEBI_30769citric acid
http://purl.obolibrary.org/obo/CHEBI_30776hexanoic acid
http://purl.obolibrary.org/obo/CHEBI_30772butyric acid
http://purl.obolibrary.org/obo/GO_0035176social behavior
http://purl.obolibrary.org/obo/GO_0001764neuron migration
HP:0009502Absent epiphysis of the distal phalanx of the 2nd finger
HP:0009505Enlarged epiphysis of the distal phalanx of the 2nd finger
HP:0009506Fragmentation of the epiphysis of the distal phalanx of the 2nd finger
HP:0009503Bracket epiphysis of the distal phalanx of the 2nd finger
HP:0009504Cone-shaped epiphysis of the distal phalanx of the 2nd finger
HP:0009509Pseudoepiphysis of the distal phalanx of the 2nd finger
HP:0009507Irregular epiphysis of the distal phalanx of the 2nd finger
HP:0009508Ivory epiphysis of the distal phalanx of the 2nd finger
http://purl.obolibrary.org/obo/GO_0050765negative regulation of phagocytosis
http://purl.obolibrary.org/obo/GO_0050766positive regulation of phagocytosis
http://purl.obolibrary.org/obo/GO_0050764regulation of phagocytosis
HP:0010509Aplasia of the tarsal bones
HP:0009512Triangular epiphysis of the distal phalanx of the 2nd finger
HP:0009513Absent epiphysis of the middle phalanx of the 2nd finger
HP:0009510Small epiphysis of the distal phalanx of the 2nd finger
HP:0009511Stippling of the epiphysis of the distal phalanx of the 2nd finger
HP:0009516Enlarged epiphysis of the middle phalanx of the 2nd finger
HP:0010501Limitation of knee mobility
HP:0009517Fragmentation of the epiphysis of the middle phalanx of the 2nd finger
HP:0010502Fibular bowing
HP:0009514Bracket epiphysis of the middle phalanx of the 2nd finger
HP:0010503Fibular duplication
HP:0009515Cone-shaped epiphysis of the middle phalanx of the 2nd finger
HP:0010504Increased length of the tibia
HP:0010505Limitation of movement at ankles
HP:0010506Abnormal plantar dermatoglyphics
HP:0009518Irregular epiphysis of the middle phalanx of the 2nd finger
HP:0010507Foot asymmetry
HP:0009519Ivory epiphysis of the middle phalanx of the 2nd finger
HP:0010508Metatarsus valgus
HP:0200104Absent fifth fingernail
HP:0200105Absent fifth toenail
HP:0200107Shortened inner dynein arms
http://purl.obolibrary.org/obo/CL_0000417endopolyploid cell
http://purl.obolibrary.org/obo/CL_0000412polyploid cell
HP:0200108Shortened outer dynein arms
HP:0200109Absent/shortened outer dynein arms
HP:0200106Absent/shortened dynein arms
HP:0012255Dynein arm defect of respiratory motile cilia
HP:0200127Atrial cardiomyopathy
HP:0200128Biventricular hypertrophy
HP:0200122Atypical or prolonged hepatitis
HP:0200124Chronic hepatitis due to cryptosporidium infection
HP:0200125Mitochondrial respiratory chain defects
HP:0200120Chronic active hepatitis
HP:0200123Chronic hepatitis
http://purl.obolibrary.org/obo/NCBITaxon_4896Schizosaccharomyces pombe
HP:0200116Distal ileal atresia
HP:0200117Recurrent upper and lower respiratory tract infections
HP:0200118Malabsorption of Vitamin B12
HP:0200111Absent stapes head
HP:0200113Aphalangy of hands and feet
HP:0200119Acute hepatitis
http://purl.obolibrary.org/obo/PR_P494294-hydroxyphenylpyruvate dioxygenase (mouse)
HP:0010432Absent distal phalanx of the 2nd toe
HP:0010433Short distal phalanx of the 2nd toe
HP:0010434Aplasia of the middle phalanx of the 2nd toe
HP:0009450Broad proximal phalanx of the 3rd finger
HP:0010435Short middle phalanx of the 2nd toe
http://purl.obolibrary.org/obo/UBERON_0010376pancreas ventral primordium
HP:0010436Aplasia of the proximal phalanx of the 2nd toe
HP:0010430Aplasia of the phalanges of the 2nd toe
http://purl.obolibrary.org/obo/UBERON_0010375pancreas dorsal primordium
HP:0010437Short proximal phalanx of the 2nd toe
HP:0010431Short phalanx of the 2nd toe
HP:0010395Aplasia/hypoplasia of the proximal phalanx of the 2nd toe
http://purl.obolibrary.org/obo/UBERON_0010379superior tarsal muscle
http://purl.obolibrary.org/obo/UBERON_0010378mesenchyme from splanchnopleure
http://purl.obolibrary.org/obo/UBERON_0010380enteric nerve
http://purl.obolibrary.org/obo/GO_0060083smooth muscle contraction involved in micturition
HP:0010440Ectopic accesory toe-like appendage
HP:0010441Ectopic accessory finger-like appendage
http://purl.obolibrary.org/obo/UBERON_0010384lumen of laryngopharynx
HP:0010443Bifid femur
HP:0010444Pulmonary insufficiency
HP:0010445Primum atrial septal defect
HP:0009453Osteolytic defects of the proximal phalanx of the 3rd finger
HP:0009454Patchy sclerosis of the proximal phalanx of the 3rd finger
HP:0100909Sclerosis of the proximal phalanx of the 3rd finger
HP:0009451Bullet-shaped proximal phalanx of the 3rd finger
HP:0009452Curved proximal phalanx of the 3rd finger
HP:0009458Aplasia of the proximal phalanx of the 3rd finger
HP:0009456Triangular shaped proximal phalanx of the 3rd finger
http://purl.obolibrary.org/obo/CHEBI_64049food acidity regulator
http://purl.obolibrary.org/obo/UBERON_0010388proximal segment of rib
HP:0010446Tricuspid stenosis
HP:0009459Short proximal phalanx of the 3rd finger
HP:0009457Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger
HP:0010448Colonic atresia
http://purl.obolibrary.org/obo/GO_0060073micturition
http://purl.obolibrary.org/obo/UBERON_0010390lumen of urethra
HP:0010452Ectopia of the spleen
http://purl.obolibrary.org/obo/UBERON_0010395lymph node primary follicle
http://purl.obolibrary.org/obo/UBERON_0010748lymph node follicle
HP:0010453Pelvic bone asymmetry
HP:0010454Acetabular spurs
HP:0010455Steep acetabular roof
HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger
HP:0009470Contracture of the metacarpophalangeal joint of the 3rd finger
HP:0009464Ulnar deviation of the 2nd finger
HP:0009462Radial deviation of the 3rd finger
HP:0009463Ulnar deviation of the 3rd finger
HP:0009469Contracture of the distal interphalangeal joint of the 3rd finger
HP:0009319Joint contracture of the 3rd finger
http://purl.obolibrary.org/obo/GO_0060048cardiac muscle contraction
HP:0009467Radial deviation of the 2nd finger
http://purl.obolibrary.org/obo/GO_0060047heart contraction
http://purl.obolibrary.org/obo/GO_0003015heart process
http://purl.obolibrary.org/obo/UBERON_0010399spleen trabecular artery
http://zfin.org/action/marker/view/ZDB-GENE-980526-110ins (zebrafish)
HP:0010458Female pseudohermaphroditism
HP:0010459True hermaphroditism
HP:0010463Aplasia of the ovary
http://purl.obolibrary.org/obo/CHEBI_78631chroman-6-ol
HP:0010464Streak ovary
HP:0010465Precocious puberty in females
HP:0009482Proximal/middle symphalangism of 3rd finger
HP:0009483Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal
HP:0009455Symphalangism affecting the proximal phalanx of the 3rd finger
HP:0009477Proximal/middle symphalangism of 4th finger
HP:0009308Symphalangism of middle phalanx of 4th finger
HP:0009478Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal
HP:0009314Symphalangism affecting the proximal phalanx of the 4th finger
HP:0010469Absent testis
http://purl.obolibrary.org/obo/GO_1903561extracellular vesicle
http://purl.obolibrary.org/obo/GO_1903565negative regulation of protein localization to cilium
http://purl.obolibrary.org/obo/GO_1903566positive regulation of protein localization to cilium
http://purl.obolibrary.org/obo/GO_1903564regulation of protein localization to cilium
http://purl.obolibrary.org/obo/UBERON_00103391st arch mandibular mesenchyme from head mesenchyme
http://purl.obolibrary.org/obo/UBERON_00103381st arch maxillary mesenchyme from head mesenchyme
HP:0009402Stippling of the epiphyses of the 4th finger
HP:0009403Triangular epiphyses of the 4th finger
HP:0009400Pseudoepiphyses of the 4th finger
HP:0009401Small epiphyses of the 4th finger
HP:0009406Patchy sclerosis of 4th finger phalanx
HP:0100920Sclerosis of 4th finger phalanx
HP:0009407Triangular shaped phalanges of the 4th finger
http://purl.obolibrary.org/obo/UBERON_0010332epithelium of handplate
HP:0009404Broad phalanges of the 4th finger
HP:0009405Bullet-shaped phalanges of the 4th finger
http://purl.obolibrary.org/obo/CHEBI_52090methoxide
http://purl.obolibrary.org/obo/UBERON_0010337mandibular process mesenchyme from head mesenchyme
http://purl.obolibrary.org/obo/UBERON_0010336mandibular process mesenchyme from neural crest
HP:0009408Aplasia/Hypoplasia of the phalanges of the 4th finger
http://purl.obolibrary.org/obo/UBERON_0010335maxillary process mesenchyme from head mesenchyme
http://purl.obolibrary.org/obo/UBERON_0010334maxillary process mesenchyme from neural crest
http://purl.obolibrary.org/obo/UBERON_0009526maxillary process mesenchyme
http://purl.obolibrary.org/obo/GO_1903552negative regulation of extracellular exosome assembly
HP:0010400Patchy sclerosis of the proximal phalanx of the 2nd toe
HP:0100931Sclerosis of the proximal phalanx of the 2nd toe
http://purl.obolibrary.org/obo/GO_1903553positive regulation of extracellular exosome assembly
http://purl.obolibrary.org/obo/GO_1903551regulation of extracellular exosome assembly
HP:0009410Absent epiphyses of the 3rd finger
http://purl.obolibrary.org/obo/UBERON_0010349otic capsule pre-cartilage condensation
HP:0009413Enlarged epiphyses of the 3rd finger
HP:0009414Fragmentation of the epiphyses of the 3rd finger
HP:0009411Bracket epiphyses of the 3rd finger
HP:0009417Pseudoepiphyses of the 3rd finger
http://purl.obolibrary.org/obo/UBERON_00103443rd arch mesenchyme from head mesenchyme
HP:0010402Triangular shaped proximal phalanx of the 2nd toe
HP:0009418Small epiphyses of the 3rd finger
http://purl.obolibrary.org/obo/UBERON_00103432nd arch mesenchyme from head mesenchyme
HP:0009415Irregular epiphyses of the 3rd finger
HP:0010404Aplasia/Hypoplasia of the middle phalanx of the 2nd toe
HP:0009416Ivory epiphyses of the 3rd finger
http://purl.obolibrary.org/obo/UBERON_00103411st arch mesenchyme from head mesenchyme
HP:0010405Broad middle phalanx of the 2nd toe
http://purl.obolibrary.org/obo/UBERON_0010348hyoid pre-muscle mass
HP:0010406Bullet-shaped middle phalanx of the 2nd toe
HP:0010196Bullet-shaped middle toe phalanx
http://purl.obolibrary.org/obo/UBERON_00103476th arch mesenchyme from head mesenchyme
HP:0010407Curved middle phalanx of the 2nd toe
HP:0009419Stippling of the epiphyses of the 3rd finger
HP:0010408Osteolytic defects of the middle phalanx of the 2nd toe
HP:0010198Osteolytic defects of the middle phalanges of the toes
http://purl.obolibrary.org/obo/UBERON_00103454th arch mesenchyme from head mesenchyme
HP:0010409Patchy sclerosis of the middle phalanx of the 2nd toe
HP:0100935Sclerosis of the middle phalanx of the 2nd toe
HP:0010411Triangular shaped middle phalanx of the 2nd toe
HP:0010201Triangular shaped middle phalanges of the toes
http://purl.obolibrary.org/obo/UBERON_0022360male mammary gland duct
http://purl.obolibrary.org/obo/UBERON_2001947hyomandibular-otic region joint
HP:0009420Triangular epiphyses of the 3rd finger
http://purl.obolibrary.org/obo/UBERON_0022361lung field
HP:0009424Osteolytic defects of the distal phalanx of the 3rd finger
HP:0009425Patchy sclerosis of the distal phalanx of the 3rd finger
HP:0100901Sclerosis of the distal phalanx of the 3rd finger
http://purl.obolibrary.org/obo/GO_0098632cell-cell adhesion mediator activity
http://purl.obolibrary.org/obo/GO_0098631cell adhesion mediator activity
HP:0009422Broad distal phalanx of the 3rd finger
HP:0009423Bullet-shaped distal phalanx of the 3rd finger
http://purl.obolibrary.org/obo/GO_0060004reflex
HP:0009428Curved distal phalanx of the 3rd finger
http://purl.obolibrary.org/obo/UBERON_0010355ossification center
HP:0010413Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
HP:0010347Aplasia/Hypoplasia of the phalanges of the 2nd toe
HP:0010325Aplasia/Hypoplasia of the 2nd toe
HP:0009429Aplasia of the distal phalanx of the 3rd finger
http://purl.obolibrary.org/obo/UBERON_0010354Reichert's cartilage pre-cartilage condensation
HP:0010414Broad distal phalanx of the 2nd toe
HP:0010348Broad phalanges of the 2nd toe
HP:0009426Distal/middle symphalangism of 3rd finger
HP:0010415Bullet-shaped distal phalanx of the 2nd toe
HP:0010349Bullet-shaped 2nd toe phalanx
HP:0010187Bullet-shaped distal toe phalanx
HP:0009427Triangular shaped distal phalanx of the 3rd finger
HP:0010416Curved distal phalanx of the 2nd toe
HP:0010350Curved 2nd toe phalanx
HP:0010417Osteolytic defects of the distal phalanx of the 2nd toe
HP:0010351Osteolytic defects of the phalanges of the 2nd toe
HP:0010418Patchy sclerosis of the distal phalanx of the 2nd toe
HP:0100939Sclerosis of the distal phalanx of the 2nd toe
HP:0010352Patchy sclerosis of 2nd toe phalanx
HP:0100926Sclerosis of 2nd toe phalanx
HP:0010419Symphalangism affecting the distal phalanx of the 2nd toe
http://purl.obolibrary.org/obo/UBERON_0010362endoskeleton
HP:0010420Triangular shaped distal phalanx of the 2nd toe
HP:0010354Triangular shaped phalanges of the 2nd toe
HP:0010192Triangular shaped distal phalanges of the toes
http://purl.obolibrary.org/obo/GO_0050687negative regulation of defense response to virus
http://purl.obolibrary.org/obo/GO_0050688regulation of defense response to virus
http://purl.obolibrary.org/obo/UBERON_0010360pharyngeal arch mesenchyme from head mesenchyme
HP:0010422Complete duplication of the proximal phalanx of the 2nd toe
HP:0010423Partial duplication of the proximal phalanx of the 2nd toe
HP:0010403Duplication of the proximal phalanx of the 2nd toe
http://purl.obolibrary.org/obo/UBERON_0022357mesentery of ileum
http://purl.obolibrary.org/obo/UBERON_0022355basal layer of endometrium
HP:0009431Bullet-shaped middle phalanx of the 3rd finger
HP:0009441Bullet-shaped phalanges of the 3rd finger
HP:0009432Curved middle phalanx of the 3rd finger
HP:0009442Curved phalanges of the 3rd finger
HP:0009430Broad middle phalanx of the 3rd finger
HP:0009440Broad phalanges of the 3rd finger
HP:0009435Symphalangism of middle phalanx of 3rd finger
HP:0009445Symphalangism of the 3rd finger
HP:0009436Triangular shaped middle phalanx of the 3rd finger
HP:0009446Triangular shaped phalanges of the 3rd finger
HP:0009433Osteolytic defects of the middle phalanx of the 3rd finger
HP:0009443Osteolytic defects of the phalanges of the 3rd finger
HP:0009434Patchy sclerosis of the middle phalanx of the 3rd finger
HP:0100905Sclerosis of the middle phalanx of the 3rd finger
HP:0009444Patchy sclerosis of 3rd finger phalanx
HP:0100919Sclerosis of 3rd finger phalanx
HP:0009439Short middle phalanx of the 3rd finger
http://purl.obolibrary.org/obo/UBERON_0010366conjunctival vasculature
HP:0010424Complete duplication of the distal phalanx of the 2nd toe
HP:0010425Partial duplication of the distal phalanx of the 2nd toe
HP:0010421Duplication of the distal phalanx of the 2nd toe
http://purl.obolibrary.org/obo/UBERON_0010364dermal skeleton
HP:0010426Complete duplication of the middle phalanx of the 2nd toe
HP:0009438Absent middle phalanx of 3rd finger
HP:0009437Aplasia/Hypoplasia of the middle phalanx of the 3rd finger
HP:0009460Aplasia of the 3rd finger
HP:0010427Partial duplication of the middle phalanx of the 2nd toe
HP:0010412Duplication of the middle phalanx of the 2nd toe
HP:0010428Partial duplication of phalanx of the 2nd toe
HP:0010429Complete duplication of the phalanges of the 2nd toe
HP:0010355Duplication of the phalanges of the 2nd toe
http://purl.obolibrary.org/obo/UBERON_0010368pulmonary lobule
http://purl.obolibrary.org/obo/UBERON_0010367conjunctival vein
http://purl.obolibrary.org/obo/UBERON_0000978leg
http://purl.obolibrary.org/obo/UBERON_0000977pleura
http://purl.obolibrary.org/obo/UBERON_0000979tibia
http://purl.obolibrary.org/obo/UBERON_0015004tibia endochondral element
http://purl.obolibrary.org/obo/UBERON_0000974neck
http://purl.obolibrary.org/obo/UBERON_0000976humerus
http://purl.obolibrary.org/obo/UBERON_0000975sternum
http://purl.obolibrary.org/obo/CHEBI_39015apolipoprotein
http://purl.obolibrary.org/obo/UBERON_0000989penis
http://purl.obolibrary.org/obo/UBERON_0000988pons
http://purl.obolibrary.org/obo/UBERON_0000981femur
HP:0200096Triangular-shaped open mouth
HP:0000207Triangular mouth
HP:0000194Open mouth
HP:0200097Oral mucosal blisters
http://purl.obolibrary.org/obo/CHEBI_27024toluenes
http://purl.obolibrary.org/obo/UBERON_0000983metatarsus region
http://purl.obolibrary.org/obo/CHEBI_27026toxin
http://purl.obolibrary.org/obo/UBERON_0000985axillary vein
HP:0200094Frontal open bite
HP:0200095Anterior open bite
http://purl.obolibrary.org/obo/UBERON_0010306bulbar conjunctiva
http://purl.obolibrary.org/obo/UBERON_0010309palpebral bone
http://purl.obolibrary.org/obo/UBERON_0000999ejaculatory duct
http://purl.obolibrary.org/obo/UBERON_0000993oviduct
http://purl.obolibrary.org/obo/UBERON_0000996vagina
http://purl.obolibrary.org/obo/UBERON_0000998seminal vesicle
http://purl.obolibrary.org/obo/UBERON_0000997mammalian vulva
http://purl.obolibrary.org/obo/UBERON_0010312immature eye
http://purl.obolibrary.org/obo/UBERON_0010328limb bud mesenchyme
http://purl.obolibrary.org/obo/UBERON_0010321skeletal element of eye region
http://purl.obolibrary.org/obo/CHEBI_39026low-density lipoprotein
http://purl.obolibrary.org/obo/CHEBI_6495lipoprotein
http://purl.obolibrary.org/obo/CHEBI_39024clathrate compound
http://purl.obolibrary.org/obo/CHEBI_39022inclusion compound
http://purl.obolibrary.org/obo/UBERON_0010323cranial skeletal system
http://purl.obolibrary.org/obo/CHEBI_76042aromatic amino-acid zwitterion
HP:0010472Abnormal circulating porphyrin concentration
HP:0010473Porphyrinuria
HP:0010474Bladder stones
http://purl.obolibrary.org/obo/UBERON_0000935anterior commissure
http://purl.obolibrary.org/obo/UBERON_0005341ventral commissure
HP:0010475Cloacal exstrophy
HP:0012620Cloacal abnormality
HP:0010477Aplasia of the bladder
http://purl.obolibrary.org/obo/UBERON_0022302short ciliary nerve
http://purl.obolibrary.org/obo/PATO_0001784bifurcated
HP:0550005Bilateral basilar pulmonary fibrosis
HP:0002206Pulmonary fibrosis
HP:0550004Verruca plana
HP:0550003Proximal scleroderma
http://purl.obolibrary.org/obo/UBERON_0000930stomodeum
http://purl.obolibrary.org/obo/PATO_0001780dystrophic
http://purl.obolibrary.org/obo/PATO_0001783decreased intensity
http://purl.obolibrary.org/obo/PATO_0001782increased intensity
HP:0010470Supernumerary testes
http://purl.obolibrary.org/obo/UBERON_0000931proctodeum
http://purl.obolibrary.org/obo/PATO_0001790decreased mass density
HP:0010479Patent urachus
http://purl.obolibrary.org/obo/UBERON_0000945stomach
HP:0010482Acromelia of the upper limbs
HP:0010483Amniotic constriction rings of arms
HP:0010485Hyperextensibility at elbow
http://purl.obolibrary.org/obo/UBERON_0000949endocrine system
http://purl.obolibrary.org/obo/PATO_0001778increased strength
http://purl.obolibrary.org/obo/UBERON_0000948heart
http://purl.obolibrary.org/obo/UBERON_0007100primary circulatory organ
http://purl.obolibrary.org/obo/PATO_0001777decreased flexibility
HP:0010487Small hypothenar eminence
HP:0010486Abnormality of the hypothenar eminence
http://purl.obolibrary.org/obo/PATO_0001779decreased strength
http://purl.obolibrary.org/obo/PATO_0001230strength
HP:0010489Absent palmar crease
http://purl.obolibrary.org/obo/PATO_0001776increased flexibility
http://purl.obolibrary.org/obo/PATO_0001544flexible
http://purl.obolibrary.org/obo/PATO_0001543flexibility
http://purl.obolibrary.org/obo/UBERON_0000941cranial nerve II
HP:0009499Abnormality of the epiphysis of the distal phalanx of the 2nd finger
http://purl.obolibrary.org/obo/UBERON_0000956cerebral cortex
HP:0010494Acromelia of the lower limbs
HP:0010495Amniotic constriction rings of legs
HP:0010497Sirenomelia
http://purl.obolibrary.org/obo/UBERON_0000959optic chiasma
http://purl.obolibrary.org/obo/UBERON_0007425decussation of diencephalon
HP:0010498Bipartite patella
HP:0010499Patellar subluxation
http://purl.obolibrary.org/obo/UBERON_0000951rotator muscle of the vertebral column
HP:0010491Digital constriction ring
HP:0010492Osseous finger syndactyly
http://purl.obolibrary.org/obo/CHEBI_27093tricarboxylic acid
http://purl.obolibrary.org/obo/GO_0060084synaptic transmission involved in micturition
http://purl.obolibrary.org/obo/UBERON_0000966retina
http://purl.obolibrary.org/obo/UBERON_0005388photoreceptor array
http://purl.obolibrary.org/obo/CHEBI_78675fundamental metabolite
http://purl.obolibrary.org/obo/PATO_0001796decreased coiling
http://purl.obolibrary.org/obo/PATO_0001795increased coiling
http://purl.obolibrary.org/obo/UBERON_0000962nerve of cervical vertebra
http://purl.obolibrary.org/obo/UBERON_0000965lens of camera-type eye
http://purl.obolibrary.org/obo/UBERON_0005389transparent eye structure
http://purl.obolibrary.org/obo/PATO_0001793right side of
http://purl.obolibrary.org/obo/UBERON_0000964cornea
HP:0200028Pretibial myxedema
HP:0200023Priapism
http://purl.obolibrary.org/obo/GO_2001200positive regulation of dendritic cell differentiation
http://purl.obolibrary.org/obo/GO_2001198regulation of dendritic cell differentiation
HP:0200025Mandibular pain
HP:0200021Down-sloping shoulders
HP:0200022Choroid plexus papilloma
http://purl.obolibrary.org/obo/CL_0000339glioblast (sensu Vertebrata)
http://purl.obolibrary.org/obo/CL_0000030glioblast
http://purl.obolibrary.org/obo/CL_0000123neuron associated cell (sensu Vertebrata)
http://purl.obolibrary.org/obo/PATO_0001908multinucleate
HP:0200016Acrokeratosis
HP:0200017Cerebral white matter agenesis
http://purl.obolibrary.org/obo/PR_000027223CALCA gene translation product (mouse)
HP:0200018Protanomaly
http://purl.obolibrary.org/obo/PR_000027222CALCA gene translation product
HP:0200012Short corpus callosum
HP:0200015Symmetric great toe depigmentation
http://purl.obolibrary.org/obo/CHEBI_17650cortisol
http://purl.obolibrary.org/obo/CHEBI_13814117alpha-hydroxy-C21-steroid
HP:0200011Abnormal length of corpus callosum
http://purl.obolibrary.org/obo/CL_0000329oxygen accumulating cell
http://purl.obolibrary.org/obo/CL_0000328myelin accumulating cell
HP:0200049Upper limb hypertonia
http://purl.obolibrary.org/obo/UBERON_0000913interstitial fluid
http://purl.obolibrary.org/obo/UBERON_0000916abdomen
http://purl.obolibrary.org/obo/PATO_0001921mislocalised anteriorly
HP:0200046Cat cry
http://purl.obolibrary.org/obo/UBERON_0000915thoracic segment of trunk
http://purl.obolibrary.org/obo/CL_0000355multi-potent skeletal muscle stem cell
HP:0200047Chondritis of pinna
http://purl.obolibrary.org/obo/PATO_0001923mislocalised laterally
HP:0200048Cyanotic episode
http://purl.obolibrary.org/obo/PATO_0001922mislocalised posteriorly
HP:0200041Skin erosion
HP:0200044Porokeratosis
http://purl.obolibrary.org/obo/CHEBI_30623oxalate(2-)
http://purl.obolibrary.org/obo/GO_0023019signal transduction involved in regulation of gene expression
http://purl.obolibrary.org/obo/PATO_0001928blistered
HP:0200039Pustule
http://purl.obolibrary.org/obo/PATO_0001910folded
http://purl.obolibrary.org/obo/PATO_0001925surface feature shape
http://purl.obolibrary.org/obo/UBERON_0000929pharyngeal branch of vagus nerve
HP:0200030Punctate vasculitis skin lesions
HP:0200029Vasculitis in the skin
HP:0200032Kayser-Fleischer ring
http://purl.obolibrary.org/obo/PR_P15976PR:P15976 located_in GO:0005654
http://purl.obolibrary.org/obo/PATO_0001919mislocalised dorsally
http://purl.obolibrary.org/obo/PATO_0001948furrowed
HP:0200067Recurrent spontaneous abortion
HP:0200068Nonprogressive visual loss
http://purl.obolibrary.org/obo/CL_0000377tracheoblast
http://purl.obolibrary.org/obo/CL_0000069branched duct epithelial cell
HP:0200063Colorectal polyposis
HP:0100743Neoplasm of the rectum
HP:0200066Ribbonlike corneal degeneration
http://purl.obolibrary.org/obo/PATO_0001940gigantic
http://purl.obolibrary.org/obo/GO_2001252positive regulation of chromosome organization
http://purl.obolibrary.org/obo/CL_0000381neurosecretory neuron
http://purl.obolibrary.org/obo/PATO_0001938rhomboid
http://purl.obolibrary.org/obo/PATO_0001937spatulate
HP:0200057Marcus Gunn pupil
HP:0200059Metastatic angiosarcoma
HP:0200058Angiosarcoma
HP:0200053Hemihypotrophy of lower limb
HP:0200054Foot monodactyly
HP:0200055Small hand
HP:0200050Bracket metacarpal epiphyses
http://purl.obolibrary.org/obo/CHEBI_15035retinal
http://purl.obolibrary.org/obo/CL_1001433epithelial cell of exocrine pancreas
http://purl.obolibrary.org/obo/CL_0000083epithelial cell of pancreas
http://purl.obolibrary.org/obo/GO_2001224positive regulation of neuron migration
http://purl.obolibrary.org/obo/GO_2001223negative regulation of neuron migration
http://purl.obolibrary.org/obo/GO_2001222regulation of neuron migration
HP:0200083Severe limb shortening
HP:0200084Giant cell hepatitis
http://purl.obolibrary.org/obo/CHEBI_30660thyroxine
http://purl.obolibrary.org/obo/CHEBI_30661thyronine
http://purl.obolibrary.org/obo/PATO_0001958increased variability of size
http://purl.obolibrary.org/obo/PATO_0001957decreased variability of size
http://purl.obolibrary.org/obo/PATO_0001956variability of size
http://purl.obolibrary.org/obo/PATO_0001303variability
http://purl.obolibrary.org/obo/PATO_0001955cuneate
HP:0200070Peripheral retinal atrophy
HP:0200071Peripheral vitreoretinal degeneration
HP:0200072Episodic quadriplegia
HP:0002445Tetraplegia
HP:0200073Respiratory insufficiency due to defective ciliary clearance
HP:0012261Abnormal respiratory motile cilium physiology
HP:0009608Complete duplication of proximal phalanx of the thumb
HP:0009606Complete duplication of distal phalanx of the thumb
http://purl.obolibrary.org/obo/GO_0050669negative regulation of homocysteine metabolic process
http://purl.obolibrary.org/obo/GO_0050668positive regulation of homocysteine metabolic process
http://purl.obolibrary.org/obo/GO_0050666regulation of homocysteine metabolic process
http://purl.obolibrary.org/obo/GO_0050667homocysteine metabolic process
http://purl.obolibrary.org/obo/UBERON_0022299upper eyelid nerve
HP:0010608Hordeolum internum
HP:0010609Skin tags
http://purl.obolibrary.org/obo/UBERON_0022296inferior palpebral branch of infra-orbital nerve
http://purl.obolibrary.org/obo/UBERON_0022297palpebral branch of infra-orbital nerve
HP:0009611Bifid distal phalanx of the thumb
HP:0009612Duplication of the distal phalanx of the thumb
http://purl.obolibrary.org/obo/UBERON_0022292splenic arteriole
http://purl.obolibrary.org/obo/PR_P13379T-cell surface glycoprotein CD5 (mouse)
HP:0009615Complete duplication of the first metacarpal
HP:0009616Bifid first metacarpal
HP:0009609Duplication of the 1st metacarpal
HP:0010602Type 2 muscle fiber predominance
HP:0009614Bifid proximal phalanx of the thumb
HP:0009613Duplication of the proximal phalanx of the thumb
HP:0010603Odontogenic keratocysts of the jaw
HP:0010605Chalazion
HP:0010604Cyst of the eyelid
HP:0200040Epidermoid cyst
HP:0010607Hordeolum externum
HP:0010606Hordeolum
HP:0010610Palmar pits
http://purl.obolibrary.org/obo/UBERON_0022287tear film
http://purl.obolibrary.org/obo/UBERON_0022288surface of eyeball
HP:0010619Fibroadenoma of the breast
http://purl.obolibrary.org/obo/UBERON_0022284lacrimal gland bud
HP:0009622Distally placed thumb
HP:0009623Proximal placement of thumb
HP:0009626Contractures of the interphalangeal joint of the thumb
HP:0010612Plantar pits
HP:0009624Contractures of the carpometacarpal joint of the thumb
http://purl.obolibrary.org/obo/GO_0001649osteoblast differentiation
HP:0009625Contractures of the metacarpophalangeal joint of the thumb
HP:0009600Flexion contracture of thumb
HP:0010616Lung fibroma
HP:0010617Cardiac fibroma
HP:0010618Ovarian fibroma
HP:0010620Malar prominence
HP:0012369Abnormality of malar bones
http://purl.obolibrary.org/obo/UBERON_0022278nucleus of pudendal nerve
http://purl.obolibrary.org/obo/GO_1903729regulation of plasma membrane organization
HP:0009630Broad proximal phalanx of the thumb
HP:0009633Osteolytic defect of the proximal phalanx of the thumb
HP:0009634Patchy sclerosis of the proximal phalanx of the thumb
HP:0100913Sclerosis of the proximal phalanx of the thumb
HP:0009631Bullet-shaped proximal phalanx of the thumb
HP:0009632Curved proximal phalanx of the thumb
HP:0009637Absent proximal phalanx of thumb
HP:0009638Short proximal phalanx of thumb
HP:0009629Aplasia/Hypoplasia of the proximal phalanx of the thumb
HP:0009636Triangular shaped proximal phalanx of the thumb
HP:0010626Anterior pituitary agenesis
HP:0010627Anterior pituitary hypoplasia
HP:0010625Anterior pituitary dysgenesis
http://purl.obolibrary.org/obo/UBERON_0010295substantia propria of sclera
http://purl.obolibrary.org/obo/UBERON_0010294scleral endothelium
http://purl.obolibrary.org/obo/UBERON_0010291layer of sclera
http://purl.obolibrary.org/obo/NCBITaxon_4751Fungi
http://purl.obolibrary.org/obo/GO_0001667ameboidal-type cell migration
http://purl.obolibrary.org/obo/UBERON_0010299scleral mesenchyme
http://purl.obolibrary.org/obo/PR_P01350gastrin (human)
http://purl.obolibrary.org/obo/GO_1903715regulation of aerobic respiration
http://purl.obolibrary.org/obo/CHEBI_17612(3,4-dihydroxyphenyl)acetate
http://purl.obolibrary.org/obo/GO_0001659temperature homeostasis
HP:0200006Slanting of the palpebral fissure
HP:0200001Dysharmonic accelerated bone age
HP:0200003Splayed epiphyses
http://purl.obolibrary.org/obo/CL_0000317sebum secreting cell
http://purl.obolibrary.org/obo/CL_0000152exocrine cell
http://purl.obolibrary.org/obo/CL_0000307tracheal epithelial cell
http://purl.obolibrary.org/obo/CL_0002202epithelial cell of tracheobronchial tree
http://purl.obolibrary.org/obo/CL_0002632epithelial cell of lower respiratory tract
http://purl.obolibrary.org/obo/CL_0002368respiratory epithelial cell
http://purl.obolibrary.org/obo/CL_0000306crystallin accumulating cell
http://purl.obolibrary.org/obo/CL_0000325stuff accumulating cell
http://purl.obolibrary.org/obo/GO_0001676long-chain fatty acid metabolic process
http://purl.obolibrary.org/obo/GO_0001675acrosome assembly
http://purl.obolibrary.org/obo/UBERON_00102521st arch mandibular mesenchyme from neural crest
http://purl.obolibrary.org/obo/UBERON_00095841st arch mandibular mesenchyme
HP:0010553Oculogyric crisis
HP:0009570Bullet-shaped middle phalanx of the 2nd finger
HP:0009571Curved middle phalanx of the 2nd finger
HP:0009563Distal/middle symphalangism of 2nd finger
HP:0009564Triangular shaped distal phalanx of the 2nd finger
HP:0009561Osteolytic defects of the distal phalanx of the 2nd finger
HP:0009562Patchy sclerosis of the distal phalanx of the 2nd finger
HP:0100900Sclerosis of the distal phalanx of the 2nd finger
HP:0009565Aplasia of the distal phalanx of the 2nd finger
HP:0009566Short distal phalanx of the 2nd finger
http://purl.obolibrary.org/obo/UBERON_00102564th arch mesenchyme from neural crest
http://purl.obolibrary.org/obo/UBERON_00056914th arch mesenchyme
http://purl.obolibrary.org/obo/UBERON_00102553rd arch mesenchyme from neural crest
http://purl.obolibrary.org/obo/UBERON_00056903rd arch mesenchyme
HP:0010557Overlapping fingers
HP:0009569Broad middle phalanx of the 2nd finger
http://purl.obolibrary.org/obo/UBERON_00102542nd arch mesenchyme from neural crest
http://purl.obolibrary.org/obo/UBERON_00056892nd arch mesenchyme
http://purl.obolibrary.org/obo/UBERON_00102531st arch maxillary mesenchyme from neural crest
HP:0010559Vertical clivus
HP:0010558Abnormality of the clivus
http://purl.obolibrary.org/obo/UBERON_00102591st arch mesenchyme from neural crest
http://purl.obolibrary.org/obo/UBERON_00102576th arch mesenchyme from neural crest
http://purl.obolibrary.org/obo/UBERON_0010359pharyngeal arch mesenchyme from neural crest
http://purl.obolibrary.org/obo/GO_1901052sarcosine metabolic process
HP:0010560Undulate clavicles
HP:0010561Undulate ribs
HP:0010562Keloid scar
HP:0010564Bifid epiglottis
http://purl.obolibrary.org/obo/UBERON_0010262operculum of brain
HP:0009581Broad proximal phalanx of the 2nd finger
HP:0009582Bullet-shaped proximal phalanx of the 2nd finger
HP:0009575Triangular shaped middle phalanx of the 2nd finger
HP:0009572Osteolytic defects of the middle phalanx of the 2nd finger
HP:0009573Patchy sclerosis of the middle phalanx of the 2nd finger
HP:0100904Sclerosis of the middle phalanx of the 2nd finger
HP:0009579Proximal/middle symphalangism of the 2nd finger
HP:0009574Symphalangism of middle phalanx of 2nd finger
HP:0009576Absent middle phalanx of 2nd finger
HP:0010239Aplasia of the middle phalanx of the hand
HP:0009577Short middle phalanx of the 2nd finger
HP:0009568Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
HP:0010567Y-shaped metatarsals
HP:0010569Elevated 7-dehydrocholesterol
HP:0010570Low maternal serum alpha-fetoprotein
http://purl.obolibrary.org/obo/CL_2000093bronchus fibroblast of lung
http://purl.obolibrary.org/obo/CL_0002553fibroblast of lung
HP:0010571Elevated levels of phytanic acid
HP:0010575Dysplasia of the femoral head
http://purl.obolibrary.org/obo/UBERON_0010272hyoid apparatus
http://purl.obolibrary.org/obo/CL_2000095cord blood hematopoietic stem cell
http://purl.obolibrary.org/obo/CL_0002246peripheral blood stem cell
http://purl.obolibrary.org/obo/CL_0002352gestational hematopoietic stem cell
HP:0009593Peripheral Schwannoma
HP:0009590Unilateral vestibular Schwannoma
HP:0009585Patchy sclerosis of the proximal phalanx of the 2nd finger
HP:0100908Sclerosis of the proximal phalanx of the 2nd finger
HP:0009583Curved proximal phalanx of the 2nd finger
HP:0009584Osteolytic defects of the proximal phalanx of the 2nd finger
HP:0009589Bilateral vestibular Schwannoma
HP:0009587Triangular shaped proximal phalanx of the 2nd finger
HP:0009588Vestibular Schwannoma
http://purl.obolibrary.org/obo/UBERON_0010285midbrain basal plate
http://purl.obolibrary.org/obo/UBERON_0010284lacrimal punctum
HP:0010588Premature epimetaphyseal fusion
HP:0009596Aplasia of the proximal phalanx of the 2nd finger
HP:0010242Aplasia of the proximal phalanges of the hand
HP:0009597Short proximal phalanx of the 2nd finger
HP:0009580Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger
HP:0009595Occasional neurofibromas
http://purl.obolibrary.org/obo/UBERON_0009291cartilaginous vertebral centrum
HP:0009598Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal
HP:0009586Symphalangism affecting the proximal phalanx of the 2nd finger
http://purl.obolibrary.org/obo/UBERON_0010286midbrain neural tube
HP:0010510Hypermobility of toe joints
HP:0009520Pseudoepiphysis of the middle phalanx of the 2nd finger
http://purl.obolibrary.org/obo/UBERON_0010219thyroid pre-cartilage condensation
HP:0009523Triangular epiphysis of the middle phalanx of the 2nd finger
HP:0009524Absent epiphysis of the proximal phalanx of the 2nd finger
HP:0009488Absent epiphyses of the 2nd finger
HP:0009521Small epiphysis of the middle phalanx of the 2nd finger
HP:0009522Stippling of the epiphysis of the middle phalanx of the 2nd finger
HP:0009500Abnormality of the epiphysis of the middle phalanx of the 2nd finger
HP:0009527Enlarged epiphysis of the proximal phalanx of the 2nd finger
HP:0009491Enlarged epiphyses of the 2nd finger
http://purl.obolibrary.org/obo/UBERON_0010212laryngeal apparatus
HP:0010512Adrenal calcification
HP:0009528Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger
HP:0010272Fragmentation of the epiphyses of the proximal phalanges of the hand
HP:0009492Fragmentation of the epiphyses of the 2nd finger
HP:0010513Pituitary calcification
HP:0009525Bracket epiphysis of the proximal phalanx of the 2nd finger
HP:0009489Bracket epiphyses of the 2nd finger
HP:0009526Cone-shaped epiphysis of the proximal phalanx of the 2nd finger
HP:0010516Thymus hyperplasia
http://purl.obolibrary.org/obo/UBERON_0010215arytenoid swellings
HP:0010517Ectopic thymus tissue
HP:0009529Irregular epiphysis of the proximal phalanx of the 2nd finger
HP:0009493Irregular epiphyses of the 2nd finger
http://purl.obolibrary.org/obo/UBERON_0010214cricoid pre-cartilage condensation
HP:0010518Thyroglossal cyst
HP:0010519Increased fetal movement
HP:0010521Gait apraxia
HP:0010522Dyslexia
HP:0009530Ivory epiphysis of the proximal phalanx of the 2nd finger
HP:0009494Ivory epiphyses of the 2nd finger
HP:0009531Pseudoepiphysis of the proximal phalanx of the 2nd finger
HP:0009495Pseudoepiphyses of the 2nd finger
HP:0009534Triangular epiphysis of the proximal phalanx of the 2nd finger
HP:0009498Triangular epiphyses of the 2nd finger
HP:0009535Aplasia of the 2nd finger
HP:0009532Small epiphysis of the proximal phalanx of the 2nd finger
HP:0009496Small epiphyses of the 2nd finger
HP:0009533Stippling of the epiphysis of the proximal phalanx of the 2nd finger
HP:0009501Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
HP:0009497Stippling of the epiphyses of the 2nd finger
HP:0009538Contracture of the distal interphalangeal joint of the 2nd finger
http://purl.obolibrary.org/obo/UBERON_0010223left pupil
HP:0010523Alexia
HP:0009539Contracture of the metacarpophalangeal joint of the 2nd finger
http://purl.obolibrary.org/obo/UBERON_0010222anatomical line between pupils
HP:0009536Short 2nd finger
http://purl.obolibrary.org/obo/UBERON_0010221laryngeal associated mesenchyme
HP:0010525Finger agnosia
http://purl.obolibrary.org/obo/UBERON_0010220arytenoid pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010213laryngeal pre-cartilage condensation
HP:0010526Dysgraphia
http://purl.obolibrary.org/obo/UBERON_0010227future cardiac atrium
HP:0010527Astereognosia
HP:0010528Prosopagnosia
http://purl.obolibrary.org/obo/UBERON_0010225thalamic complex
http://purl.obolibrary.org/obo/UBERON_0019269gray matter of diencephalon
HP:0010529Echolalia
http://purl.obolibrary.org/obo/UBERON_0010224right pupil
http://purl.obolibrary.org/obo/UBERON_0010230eyeball of camera-type eye
HP:0010530Palatal myoclonus
HP:0010531Spinal myoclonus
HP:0010532Paroxysmal vertigo
HP:0002321Vertigo
HP:0010533Spasmus nutans
http://purl.obolibrary.org/obo/UBERON_0022248cerebral nerve fasciculus
HP:0009540Contracture of the proximal interphalangeal joint of the 2nd finger
HP:0009537Flexion contracture of the 2nd finger
HP:0009545Symphalangism of the 2nd finger
HP:0009546Triangular shaped phalanges of the 2nd finger
http://purl.obolibrary.org/obo/UBERON_0010234palatopharyngeus muscle
HP:0010534Transient global amnesia
http://purl.obolibrary.org/obo/UBERON_0010233stroma of thyroid gland
HP:0010536Central sleep apnea
HP:0010535Sleep apnea
http://purl.obolibrary.org/obo/UBERON_0010231anatomical line between outer ears
HP:0010538Small sella turcica
HP:0010539Thin calvarium
http://purl.obolibrary.org/obo/UBERON_0010235uvular muscle
HP:0010540Advanced pneumatization of cranial sinuses
HP:0010541Cutis gyrata of scalp
HP:0010542Vestibular nystagmus
HP:0010543Opsoclonus
http://purl.obolibrary.org/obo/UBERON_0022236peduncle of thalamus
HP:0046507Bradypnea
HP:0009560Curved distal phalanx of the 2nd finger
HP:0009549Curved phalanges of the 2nd finger
http://purl.obolibrary.org/obo/UBERON_0022235peduncle of diencephalon
HP:0009550Osteolytic defects of the phalanges of the 2nd finger
HP:0009551Patchy sclerosis of 2nd finger phalanx
HP:0100918Sclerosis of 2nd finger phalanx
HP:0009556Absent tibia
HP:0009557Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
HP:0009552Aplasia/Hypoplasia of the phalanges of the 2nd finger
HP:0009554Preauricular hair displacement
HP:0009555Hypoplasia of the pharynx
HP:0010545Downbeat nystagmus
HP:0009558Broad distal phalanx of the 2nd finger
HP:0009547Broad phalanges of the 2nd finger
HP:0009559Bullet-shaped distal phalanx of the 2nd finger
HP:0009548Bullet-shaped phalanges of the 2nd finger
http://purl.obolibrary.org/obo/PATO_0001869pathological
http://purl.obolibrary.org/obo/CL_2000030hypothalamus native cell
http://purl.obolibrary.org/obo/PATO_0001863chronic
http://purl.obolibrary.org/obo/PATO_0001860decreased coordination
http://purl.obolibrary.org/obo/CHEBI_30566gamma-aminobutyrate
http://purl.obolibrary.org/obo/CL_2000021sebaceous gland native cell
http://purl.obolibrary.org/obo/CL_2000025spinal cord oligodendrocyte
http://purl.obolibrary.org/obo/CL_0000128oligodendrocyte
http://purl.obolibrary.org/obo/PATO_0001859increased coordination
http://purl.obolibrary.org/obo/PATO_0001855horizontal
http://purl.obolibrary.org/obo/CL_2000042embryonic fibroblast
http://purl.obolibrary.org/obo/PATO_0001854vertical
http://purl.obolibrary.org/obo/PATO_0001851swollen
http://purl.obolibrary.org/obo/PATO_0001850scarred
http://purl.obolibrary.org/obo/PATO_0001883clavate
http://purl.obolibrary.org/obo/UBERON_0009205lateral nasal process mesenchyme
http://purl.obolibrary.org/obo/CL_2000001peripheral blood mononuclear cell
http://purl.obolibrary.org/obo/CL_0000080circulating cell
http://purl.obolibrary.org/obo/UBERON_0009204medial nasal process mesenchyme
http://purl.obolibrary.org/obo/UBERON_0009501mesenchyme of fronto-nasal process
http://purl.obolibrary.org/obo/UBERON_0009206lateral nasal process surface ectoderm
http://purl.obolibrary.org/obo/UBERON_0009201nephric duct
http://purl.obolibrary.org/obo/CL_2000005brain macroglial cell
http://purl.obolibrary.org/obo/CL_0000126macroglial cell
http://purl.obolibrary.org/obo/CL_0000243glial cell (sensu Vertebrata)
http://purl.obolibrary.org/obo/CL_0000125glial cell
http://purl.obolibrary.org/obo/CL_0000095neuron associated cell
http://purl.obolibrary.org/obo/UBERON_0009200limb epidermis
http://purl.obolibrary.org/obo/UBERON_3000981limb external integument structure
http://purl.obolibrary.org/obo/UBERON_0009203internasal suture
http://purl.obolibrary.org/obo/CL_2000004pituitary gland cell
http://purl.obolibrary.org/obo/CL_2000020inner cell mass native cell
http://purl.obolibrary.org/obo/PATO_0001876dumbbell-shaped
http://purl.obolibrary.org/obo/PATO_0001879U-shaped
http://purl.obolibrary.org/obo/PATO_0001878sigmoid
http://purl.obolibrary.org/obo/PATO_0001872cuboid
http://purl.obolibrary.org/obo/PATO_0001875triangular
http://purl.obolibrary.org/obo/PATO_0001874discoid
http://purl.obolibrary.org/obo/PATO_0001873cylindrical
http://purl.obolibrary.org/obo/CL_2000018endothelial cell of coronary artery
http://purl.obolibrary.org/obo/CL_0010006cardiac blood vessel endothelial cell
http://purl.obolibrary.org/obo/CL_0010008cardiac endothelial cell
http://purl.obolibrary.org/obo/CL_2000012fibroblast of pedal digit skin
http://purl.obolibrary.org/obo/CL_2000013fibroblast of skin of abdomen
http://purl.obolibrary.org/obo/CL_2000010dermis blood vessel endothelial cell
http://purl.obolibrary.org/obo/CL_2000011dermis lymphatic vessel endothelial cell
http://purl.obolibrary.org/obo/CL_0002138endothelial cell of lymphatic vessel
http://purl.obolibrary.org/obo/CL_2000017fibroblast of peridontal ligament
http://purl.obolibrary.org/obo/CL_0002556fibroblast of periodontium
http://purl.obolibrary.org/obo/UBERON_0010204tail vasculature
http://purl.obolibrary.org/obo/CL_2000014fibroblast of upper leg skin
http://purl.obolibrary.org/obo/CL_2000015fibroblast of arm
http://purl.obolibrary.org/obo/UBERON_0009213pharyngeal membrane of 1st arch
http://purl.obolibrary.org/obo/UBERON_0009210pharyngeal membrane
http://purl.obolibrary.org/obo/CL_2000070optic choroid fibroblast
HP:0010592Abnormality of the distal tibial epiphysis
HP:0010595Abnormality of the distal fibular epiphysis
http://purl.obolibrary.org/obo/CL_2000074splenocyte
http://purl.obolibrary.org/obo/CL_2000073migratory cardiac neural crest cell
http://purl.obolibrary.org/obo/CL_0000333migratory neural crest cell
HP:0010599Abnormality of the distal humeral epiphysis
http://purl.obolibrary.org/obo/CL_2000067cardiac atrium fibroblast
http://purl.obolibrary.org/obo/CL_2000068pericardium fibroblast
http://purl.obolibrary.org/obo/CL_2000066cardiac ventricle fibroblast
http://purl.obolibrary.org/obo/CL_0002548fibroblast of cardiac tissue
http://purl.obolibrary.org/obo/CL_2000069gallbladder fibroblast
http://purl.obolibrary.org/obo/CL_2000080mesenchymal stem cell of abdominal adipose
http://purl.obolibrary.org/obo/CL_0002570mesenchymal stem cell of adipose
http://purl.obolibrary.org/obo/CL_2000085mononuclear cell of umbilical cord
http://purl.obolibrary.org/obo/PATO_0001899decreased circumference
http://purl.obolibrary.org/obo/PATO_0001713decreased perimeter
http://purl.obolibrary.org/obo/PATO_0001898increased circumference
http://purl.obolibrary.org/obo/PATO_0001712increased perimeter
http://purl.obolibrary.org/obo/PATO_0001648circumference
http://purl.obolibrary.org/obo/PATO_0001711perimeter
http://purl.obolibrary.org/obo/PATO_0001894phenotypic sex
http://purl.obolibrary.org/obo/PATO_0001891ovate
http://purl.obolibrary.org/obo/PATO_0001865spheroid
http://purl.obolibrary.org/obo/PATO_0001890tripartite
http://purl.obolibrary.org/obo/CL_2000079mesenchymal stem cell of femoral bone marrow
http://purl.obolibrary.org/obo/CL_0002540mesenchymal stem cell of the bone marrow
http://purl.obolibrary.org/obo/CL_0002092bone marrow cell
http://purl.obolibrary.org/obo/CL_2000076hindlimb stylopod vein endothelial cell
http://purl.obolibrary.org/obo/CL_0002543vein endothelial cell
http://purl.obolibrary.org/obo/CL_2000077skeletal muscle tissue of pectoralis major striated muscle cell
http://purl.obolibrary.org/obo/CL_2000052umbilical artery endothelial cell
http://purl.obolibrary.org/obo/CL_2000053splenic endothelial cell
http://purl.obolibrary.org/obo/CL_2000051splenic fibroblast
http://purl.obolibrary.org/obo/CL_2000046ventricular cardiac muscle cell
http://purl.obolibrary.org/obo/CL_2000047brainstem motor neuron
http://purl.obolibrary.org/obo/CL_2000048ventral horn of spinal cord spinal cord motor neuron
http://purl.obolibrary.org/obo/CL_2000060placental villous trophoblast
http://purl.obolibrary.org/obo/CL_2000063ovarian fibroblast
http://purl.obolibrary.org/obo/CL_2000064ovarian surface epithelial cell
http://purl.obolibrary.org/obo/CL_2000061placental amniotic mesenchymal stromal cell
http://purl.obolibrary.org/obo/CL_0000134mesenchymal stem cell
http://purl.obolibrary.org/obo/CL_2000062placental villus capillary endothelial cell
http://purl.obolibrary.org/obo/CL_0002577placental epithelial cell
http://purl.obolibrary.org/obo/CL_0002144capillary endothelial cell
http://purl.obolibrary.org/obo/GO_0098589membrane region
http://purl.obolibrary.org/obo/GO_0098588bounding membrane of organelle
http://www.informatics.jax.org/marker/MGI:98747Thy1 (mouse)
http://purl.obolibrary.org/obo/CHEBI_84735algal metabolite
http://purl.obolibrary.org/obo/GO_0106122negative regulation of cobalamin metabolic process
http://purl.obolibrary.org/obo/GO_0106121positive regulation of cobalamin metabolic process
http://purl.obolibrary.org/obo/NCBITaxon_33090Viridiplantae
http://purl.obolibrary.org/obo/PR_P27814killer cell lectin-like receptor subfamily B member 1C (mouse)
http://purl.obolibrary.org/obo/GO_1902553positive regulation of catalase activity
http://purl.obolibrary.org/obo/GO_1902552negative regulation of catalase activity
http://purl.obolibrary.org/obo/GO_1902551regulation of catalase activity
http://purl.obolibrary.org/obo/GO_0060348bone development
http://purl.obolibrary.org/obo/GO_0060343trabecula formation
http://purl.obolibrary.org/obo/PR_P01270parathyroid hormone (human)
HP:0008401Onychogryposis of toenails
HP:0008402Ridged fingernail
HP:0008400Onycholysis of distal fingernails
http://purl.obolibrary.org/obo/GO_0060351cartilage development involved in endochondral bone morphogenesis
http://purl.obolibrary.org/obo/GO_0060350endochondral bone morphogenesis
http://purl.obolibrary.org/obo/GO_0060349bone morphogenesis
HP:0008407Hyperconvex thumb nails
http://purl.obolibrary.org/obo/GO_1902533positive regulation of intracellular signal transduction
http://purl.obolibrary.org/obo/GO_1902532negative regulation of intracellular signal transduction
http://purl.obolibrary.org/obo/GO_1902531regulation of intracellular signal transduction
HP:0008410Subungual hyperkeratotic fragments
HP:0008416Six lumbar vertebrae
HP:0002946Supernumerary vertebrae
HP:0008414Lumbar kyphosis in infancy
HP:0008418Squared-off platyspondyly
HP:0008419Intervertebral disc degeneration
HP:0008420Punctate vertebral calcifications
HP:0008423Spinal dysplasia
HP:0008424Hypoplastic 5th lumbar vertebrae
HP:0008421Tall lumbar vertebral bodies
HP:0008425Cuboid-shaped thoracolumbar vertebral bodies
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12726VWF (human)
http://purl.obolibrary.org/obo/UBERON_0010172bulb of aorta
http://purl.obolibrary.org/obo/UBERON_0009191sphenoid bone pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010186male urethral gland
http://purl.obolibrary.org/obo/UBERON_0010183liver trabecula
http://purl.obolibrary.org/obo/UBERON_0009196indifferent external genitalia
http://purl.obolibrary.org/obo/UBERON_0009193sphenoid cartilage element
http://purl.obolibrary.org/obo/UBERON_0010189right atrium venous valve
http://purl.obolibrary.org/obo/UBERON_0010187female urethral gland
http://purl.obolibrary.org/obo/UBERON_0010191aortic system
http://purl.obolibrary.org/obo/UBERON_0010190pair of dorsal aortae
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1437CALCA (human)
http://purl.obolibrary.org/obo/UBERON_0010194hepatic portal system
http://purl.obolibrary.org/obo/PR_P37217early activation antigen CD69 (mouse)
HP:0008360Neonatal hypoproteinemia
HP:0008361Corticospinal tract pallor
http://purl.obolibrary.org/obo/UBERON_0009142entire embryonic mesenchyme
HP:0008354Factor X activation deficiency
HP:0008352Impaired platelet adhesion
HP:0008358Hyperprolinemia
http://purl.obolibrary.org/obo/UBERON_0010135sensory circumventricular organ
http://purl.obolibrary.org/obo/UBERON_0009145pharyngeal region of foregut
http://purl.obolibrary.org/obo/UBERON_0010141primitive sex cord of indifferent gonad
http://purl.obolibrary.org/obo/UBERON_0005295sex cord
HP:0008372Abnormality of vitamin A metabolism
HP:0008362Aplasia/Hypoplasia of the hallux
HP:0008363Aplasia/Hypoplasia of the tarsal bones
http://purl.obolibrary.org/obo/UBERON_0010143seminal vesicle fluid
http://purl.obolibrary.org/obo/GO_1902492positive regulation of sperm capacitation
http://purl.obolibrary.org/obo/GO_1903431positive regulation of cell maturation
http://purl.obolibrary.org/obo/GO_1902491negative regulation of sperm capacitation
http://purl.obolibrary.org/obo/GO_1903430negative regulation of cell maturation
http://purl.obolibrary.org/obo/UBERON_0010152skin mucus
HP:0008383Slow-growing nails
HP:0008376Nasal, dysarthic speech
http://purl.obolibrary.org/obo/UBERON_0010157sphenoparietal suture
http://purl.obolibrary.org/obo/UBERON_0010156sphenofrontal suture
http://purl.obolibrary.org/obo/UBERON_0010155parietomastoid suture
http://purl.obolibrary.org/obo/PR_P49238CX3C chemokine receptor 1 (human)
http://purl.obolibrary.org/obo/GO_0060285cilium-dependent cell motility
http://purl.obolibrary.org/obo/GO_0001539cilium or flagellum-dependent cell motility
http://purl.obolibrary.org/obo/GO_1902490regulation of sperm capacitation
http://purl.obolibrary.org/obo/GO_1903429regulation of cell maturation
http://purl.obolibrary.org/obo/UBERON_0010158sphenozygomatic suture
http://purl.obolibrary.org/obo/UBERON_0010160lumen of lymphatic vessel
http://purl.obolibrary.org/obo/UBERON_0010163eyebrow
http://purl.obolibrary.org/obo/UBERON_0010162post-anal tail tip
HP:0008390Recurrent loss of toenails and fingernails
HP:0008393Congenital curved nail of fourth toe
HP:0008394Congenital onychodystrophy
HP:0008391Dystrophic fingernails
HP:0008392Subungual hyperkeratosis
http://purl.obolibrary.org/obo/CHEBI_35744carbocyclic fatty acid
http://purl.obolibrary.org/obo/UBERON_0010168collection of eyelashes
http://purl.obolibrary.org/obo/UBERON_0010165collection of hair on face
http://purl.obolibrary.org/obo/GO_0060295regulation of cilium movement involved in cell motility
http://purl.obolibrary.org/obo/GO_0003352regulation of cilium movement
http://purl.obolibrary.org/obo/GO_0060294cilium movement involved in cell motility
http://purl.obolibrary.org/obo/GO_0003341cilium movement
HP:0011963Pretesticular azoospermia
HP:0011962Obstructive azoospermia
HP:0011961Non-obstructive azoospermia
HP:0000027Azoospermia
HP:0011960Substantia nigra gliosis
HP:0011969Elevated circulating luteinizing hormone level
HP:0011967Decreased circulating copper concentration
http://purl.obolibrary.org/obo/GO_0001944vasculature development
HP:0008314Decreased activity of mitochondrial complex II
HP:0011966Elevated plasma citrulline
HP:0008311Spinal cord posterior columns myelin loss
HP:0011964Intermittent painful muscle spasms
HP:0008318Elevated leukocyte alkaline phosphatase
http://purl.obolibrary.org/obo/GO_0060266negative regulation of respiratory burst involved in inflammatory response
http://purl.obolibrary.org/obo/GO_0060268negative regulation of respiratory burst
HP:0008315Decreased plasma free carnitine
http://purl.obolibrary.org/obo/GO_0060265positive regulation of respiratory burst involved in inflammatory response
http://purl.obolibrary.org/obo/GO_0060267positive regulation of respiratory burst
http://purl.obolibrary.org/obo/GO_0060264regulation of respiratory burst involved in inflammatory response
HP:0008316Abnormal mitochondria in muscle tissue
http://purl.obolibrary.org/obo/GO_0060263regulation of respiratory burst
HP:0011974Myelofibrosis
HP:0011973Paroxysmal lethargy
HP:0011972Hypoglycorrhachia
HP:0011971Dermatographic urticaria
http://purl.obolibrary.org/obo/PR_P50283T-cell antigen CD7 (mouse)
HP:0011970Cerebral amyloid angiopathy
HP:0008320Impaired collagen-induced platelet aggregation
HP:0008321Reduced factor X activity
HP:0011979Elevated urinary dopamine
HP:0011978Elevated urinary vanillylmandelic acid
HP:0011977Elevated urinary homovanillic acid
HP:0011975Aminoglycoside-induced hearing loss
http://purl.obolibrary.org/obo/UBERON_0009117indifferent gonad
HP:0008326Reduced circulating vitamin B6 level
HP:0008327Microscopic nephrocalcinosis
HP:0000121Nephrocalcinosis
http://purl.obolibrary.org/obo/UBERON_0009115thoracic thymus
http://purl.obolibrary.org/obo/UBERON_0009114cervical thymus
http://purl.obolibrary.org/obo/GO_0060271cilium assembly
HP:0011985Acholic stools
HP:0011984Atretic gallbladder
HP:0011983Brown pigment gallstones
HP:0011982Black pigment gallstones
HP:0011981Pigment gallstones
HP:0011980Cholesterol gallstones
HP:0008331Elevated creatine kinase after exercise
http://purl.obolibrary.org/obo/GO_0001961positive regulation of cytokine-mediated signaling pathway
http://purl.obolibrary.org/obo/UBERON_0009122adenohypophyseal placode
http://purl.obolibrary.org/obo/GO_0001960negative regulation of cytokine-mediated signaling pathway
HP:0008330Reduced von Willebrand factor activity
HP:0008335Renal aminoaciduria
HP:0011989Ectopic ossification in ligament tissue
HP:0008336Complex organic aciduria
HP:0011988Ectopic ossification in tendon tissue
HP:0011987Ectopic ossification in muscle tissue
http://purl.obolibrary.org/obo/GO_0001964startle response
HP:0008338Partial functional complement factor D deficiency
http://purl.obolibrary.org/obo/UBERON_0009129right atrium endocardium
http://purl.obolibrary.org/obo/UBERON_0009124geniculate placode
http://purl.obolibrary.org/obo/CHEBI_59740nucleophilic reagent
http://purl.obolibrary.org/obo/CHEBI_39144Lewis base
http://purl.obolibrary.org/obo/UBERON_0009126nodosal placode
http://purl.obolibrary.org/obo/UBERON_0009125petrosal placode
http://purl.obolibrary.org/obo/UBERON_0003078epibranchial placode
http://purl.obolibrary.org/obo/CHEBI_47778glyceride
http://purl.obolibrary.org/obo/CHEBI_35741glycerolipid
http://purl.obolibrary.org/obo/CHEBI_47775high-density lipoprotein cholesterol
HP:0011996Elevated coagulation factor V activity
HP:0011995Atrial septal dilatation
http://purl.obolibrary.org/obo/CHEBI_47774low-density lipoprotein cholesterol
http://purl.obolibrary.org/obo/CHEBI_47773very-low-density lipoprotein cholesterol
http://purl.obolibrary.org/obo/UBERON_0009133pleuroperitoneal membrane
HP:0008341Distal renal tubular acidosis
http://purl.obolibrary.org/obo/UBERON_0010129femur cartilage element
http://purl.obolibrary.org/obo/UBERON_0009132peroneus
HP:0008346Increased red cell sickling tendency
HP:0011999Paranoia
HP:0000746Delusions
HP:0008347Decreased activity of mitochondrial complex IV
HP:0008344Elevated plasma branched chain amino acids
HP:0011998Postprandial hyperglycemia
HP:0008345Hypoplasia of the iris dilator muscle
HP:0011997Postprandial hyperlactemia
http://purl.obolibrary.org/obo/UBERON_0009139right posterior cardinal vein
http://purl.obolibrary.org/obo/GO_0001959regulation of cytokine-mediated signaling pathway
http://purl.obolibrary.org/obo/UBERON_0010123future facial nucleus
http://purl.obolibrary.org/obo/GO_0001958endochondral ossification
HP:0008348Decreased circulating IgG2 level
http://purl.obolibrary.org/obo/GO_0098869cellular oxidant detoxification
http://purl.obolibrary.org/obo/UBERON_0010125future superior salivatory nucleus
HP:0008398Hypoplastic fifth fingernail
HP:0008396Chronic monilial nail infection
HP:0008399Circumungual hyperkeratosis
http://www.informatics.jax.org/marker/MGI:98822Tfrc (mouse)
http://purl.obolibrary.org/obo/CHEBI_35718antifungal agent
http://purl.obolibrary.org/obo/CHEBI_35703xenobiotic
http://purl.obolibrary.org/obo/PR_P15702leukosialin (mouse)
http://purl.obolibrary.org/obo/GO_0050839cell adhesion molecule binding
http://purl.obolibrary.org/obo/PR_Q9BZW8natural killer cell receptor 2B4 (human)
http://purl.obolibrary.org/obo/GO_0050802circadian sleep/wake cycle, sleep
http://purl.obolibrary.org/obo/GO_0106016positive regulation of inflammatory response to wounding
http://purl.obolibrary.org/obo/GO_0106015negative regulation of inflammatory response to wounding
http://purl.obolibrary.org/obo/GO_0106014regulation of inflammatory response to wounding
http://www.informatics.jax.org/marker/MGI:106664Cd93 (mouse)
http://purl.obolibrary.org/obo/GO_0035265organ growth
http://www.informatics.jax.org/marker/MGI:106675Adipoq (mouse)
http://purl.obolibrary.org/obo/GO_0035282segmentation
http://purl.obolibrary.org/obo/GO_0003002regionalization
http://www.informatics.jax.org/marker/MGI:98659Dntt (mouse)
http://purl.obolibrary.org/obo/UBERON_0010092future metencephalon
http://purl.obolibrary.org/obo/UBERON_0010091future hindbrain meninx
http://purl.obolibrary.org/obo/UBERON_0007645future meninx
http://purl.obolibrary.org/obo/UBERON_0010096future myelencephalon
http://purl.obolibrary.org/obo/GO_1900016negative regulation of cytokine production involved in inflammatory response
http://purl.obolibrary.org/obo/UBERON_0010090future falx cerebri
http://purl.obolibrary.org/obo/GO_1900017positive regulation of cytokine production involved in inflammatory response
http://purl.obolibrary.org/obo/GO_1900015regulation of cytokine production involved in inflammatory response
HP:0008511Central posterior corneal opacity
HP:0008513Bilateral conductive hearing impairment
HP:0008523Posterior helix pit
http://purl.obolibrary.org/obo/GO_0098800inner mitochondrial membrane protein complex
HP:0008527Congenital sensorineural hearing impairment
http://purl.obolibrary.org/obo/GO_0098803respiratory chain complex
http://purl.obolibrary.org/obo/GO_0098805whole membrane
HP:0008528Long hairs growing from helix of pinna
HP:0008529Absence of acoustic reflex
http://purl.obolibrary.org/obo/PATO_0015001absence due to degeneration
http://purl.obolibrary.org/obo/GO_0050892intestinal absorption
http://purl.obolibrary.org/obo/GO_0050890cognition
HP:0008537Cleft at the superior portion of the pinna
http://purl.obolibrary.org/obo/GO_0050886endocrine process
http://purl.obolibrary.org/obo/GO_0050884neuromuscular process controlling posture
http://purl.obolibrary.org/obo/GO_0050905neuromuscular process
HP:0008541Superiorly displaced ears
HP:0008542Low-frequency hearing loss
http://purl.obolibrary.org/obo/PATO_0015007prominence
http://purl.obolibrary.org/obo/UBERON_0010054malleus cartilage element
http://purl.obolibrary.org/obo/UBERON_0010052mucosa of dorsum of tongue
http://purl.obolibrary.org/obo/PATO_0040031increased width and length
http://purl.obolibrary.org/obo/PATO_0040030decreased width and length
http://purl.obolibrary.org/obo/UBERON_0010056future tongue
http://purl.obolibrary.org/obo/UBERON_0010055stapes cartilage element
http://purl.obolibrary.org/obo/UBERON_0010059hypoglossal cord
http://purl.obolibrary.org/obo/UBERON_0010061lumen of nasopharynx
http://purl.obolibrary.org/obo/UBERON_0010060pharyngeal opening of pharyngotympanic tube
http://purl.obolibrary.org/obo/UBERON_0010065auditory meatus epithelium
http://purl.obolibrary.org/obo/UBERON_0010063tympanic cavity epithelium
http://purl.obolibrary.org/obo/UBERON_0010062pharyngotympanic tube epithelium
http://purl.obolibrary.org/obo/CHEBI_84690alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer(d18:1/18:0)
http://purl.obolibrary.org/obo/UBERON_0010069outer epithelial layer of tympanic membrane
http://purl.obolibrary.org/obo/UBERON_0009647tympanic membrane epithelium
http://purl.obolibrary.org/obo/UBERON_0010070intermediate layer of tympanic membrane
http://purl.obolibrary.org/obo/UBERON_0010071layer of tympanic membrane
http://purl.obolibrary.org/obo/UBERON_0010076network of trabecular spaces in bone tissue
http://purl.obolibrary.org/obo/UBERON_0010075sacral neural crest
http://purl.obolibrary.org/obo/UBERON_0010074chromaffin system
http://purl.obolibrary.org/obo/PATO_0040019fibrotic
http://purl.obolibrary.org/obo/UBERON_0010083future dermis
http://purl.obolibrary.org/obo/UBERON_0010081future common hepatic duct
http://purl.obolibrary.org/obo/UBERON_0010084future diaphragm
http://purl.obolibrary.org/obo/UBERON_0009098gravid uterus
http://purl.obolibrary.org/obo/UBERON_0000995uterus
http://purl.obolibrary.org/obo/UBERON_0009097gravid organism
http://purl.obolibrary.org/obo/UBERON_0007023adult organism
HP:0008501Median cleft lip and palate
HP:0000161Median cleft lip
HP:0009099Median cleft palate
HP:0008504Moderate sensorineural hearing impairment
HP:0012713Moderate hearing impairment
HP:0008509Aged leonine appearance
HP:0008507Static ophthalmoparesis
HP:0008482Asymmetry of spinal facet joints
HP:0008480Cervical spondylosis
HP:0008475Hypoplastic sacral vertebrae
HP:0008472Prominent protruding coccyx
HP:0008478Scheuermann-like vertebral changes
HP:0008476Irregular sclerotic endplates
HP:0008477Poorly ossified cervical vertebrae
HP:0100856Poorly ossified vertebrae
http://purl.obolibrary.org/obo/CHEBI_35610antineoplastic agent
http://purl.obolibrary.org/obo/UBERON_0010011collection of basal ganglia
http://purl.obolibrary.org/obo/UBERON_0010020tubotympanic recess epithelium
HP:0008491Premature anterior fontanel closure
http://purl.obolibrary.org/obo/UBERON_0009032right pulmonary vein
HP:0008486Lumbar interpedicular narrowing
HP:0008483Cervical vertebral bodies with decreased anteroposterior diameter
HP:0008484Thoracolumbar interpediculate narrowness
HP:0008489Spondylolisthesis at L5-S1
http://purl.obolibrary.org/obo/UBERON_0009030left pulmonary vein
HP:0008488Anterior rounding of vertebral bodies
http://purl.obolibrary.org/obo/UBERON_0009039lymph node germinal center
http://purl.obolibrary.org/obo/CHEBI_4167D-glucopyranose
http://purl.obolibrary.org/obo/CHEBI_17634D-glucose
http://purl.obolibrary.org/obo/UBERON_0010032anterior part of tongue
http://purl.obolibrary.org/obo/UBERON_00100316th arch mesenchyme
http://purl.obolibrary.org/obo/UBERON_0009042prostatic venous plexus
HP:0008497Congenital craniofacial dysostosis
HP:0008494Inferior lens subluxation
HP:0008498No permanent dentition
http://purl.obolibrary.org/obo/UBERON_0010033posterior part of tongue
http://purl.obolibrary.org/obo/UBERON_0010039food storage organ
http://purl.obolibrary.org/obo/CHEBI_35623anticonvulsant
http://purl.obolibrary.org/obo/UBERON_0010046entire pharyngeal arch associated mesenchyme
http://purl.obolibrary.org/obo/CHEBI_35620vasodilator agent
http://purl.obolibrary.org/obo/UBERON_00100451st arch maxillary mesenchyme
http://purl.obolibrary.org/obo/UBERON_00100421st arch mesenchyme
http://purl.obolibrary.org/obo/UBERON_0009494pharyngeal arch mesenchymal region
http://purl.obolibrary.org/obo/CHEBI_35621alpha-aminobutyric acid
http://purl.obolibrary.org/obo/GO_0060173limb development
HP:0008434Hypoplastic cervical vertebrae
HP:0008435Absent in utero ossification of vertebral bodies
HP:0008432Anterior wedging of L1
HP:0008433Reversed usual vertebral column curves
HP:0008439Lumbar hemivertebrae
HP:0008436Absent/hypoplastic coccyx
HP:0008437Bifid thoracic vertebrae
HP:0008441Herniation of intervertebral nuclei
HP:0008442Vertebral hyperostosis
HP:0008445Cervical spinal canal stenosis
HP:0008443Spinal deformities
HP:0008444Posterior wedging of vertebral bodies
HP:0008449Progressive cervical vertebral spine fusion
HP:0008447Hypoplastic coccygeal vertebrae
http://purl.obolibrary.org/obo/UBERON_0012650gastroduodenal junction
HP:0008460Hypoplastic spinal processes
HP:0008452Wafer-thin platyspondyly
http://purl.obolibrary.org/obo/GO_0001841neural tube formation
HP:0008453Congenital kyphoscoliosis
HP:0008451Posterior vertebral hypoplasia
http://purl.obolibrary.org/obo/PR_P52787cobalamin binding intrinsic factor (mouse)
HP:0008456C2-C3 subluxation
http://purl.obolibrary.org/obo/CHEBI_33017diphosphate(1-)
HP:0008457Caudal interpedicular narrowing
http://purl.obolibrary.org/obo/CHEBI_33019diphosphate(3-)
http://purl.obolibrary.org/obo/GO_0001843neural tube closure
HP:0008455Dysplastic sacrum
http://purl.obolibrary.org/obo/GO_0060125negative regulation of growth hormone secretion
http://purl.obolibrary.org/obo/GO_0060124positive regulation of growth hormone secretion
http://purl.obolibrary.org/obo/GO_0060123regulation of growth hormone secretion
http://purl.obolibrary.org/obo/UBERON_0012651mucosa of gastroduodenal junction
HP:0008458Progressive congenital scoliosis
HP:0008459Cervical vertebral agenesis
http://purl.obolibrary.org/obo/UBERON_0009002placental membrane
HP:0008470Lower thoracic interpediculate narrowness
HP:0008450Narrow vertebral interpedicular distance
http://purl.obolibrary.org/obo/UBERON_0009010periurethral tissue
HP:0008463Central vertebral hypoplasia
HP:0008464Absent spinous processes of lower thoracic and lumbar vertebrae
HP:0008516Abnormality of the vertebral spinous processes
HP:0008461Cervical vertebral facet hypoplasia
http://purl.obolibrary.org/obo/UBERON_0010009aggregate regional part of brain
http://purl.obolibrary.org/obo/UBERON_0034923disconnected anatomical group
HP:0008462Cervical instability
HP:0008467Thoracic hemivertebrae
HP:0008468Abnormal sacral segmentation
http://purl.obolibrary.org/obo/GO_0060136embryonic process involved in female pregnancy
http://purl.obolibrary.org/obo/CHEBI_35664EC 1.1.1.34/EC 1.1.1.88 (hydroxymethylglutaryl-CoA reductase) inhibitor
HP:0008469Cervical vertebral dysplasia
http://purl.obolibrary.org/obo/UBERON_0009014lower back skin
http://purl.obolibrary.org/obo/UBERON_0010005placental labyrinth villous
http://purl.obolibrary.org/obo/UBERON_0009015upper back skin
http://purl.obolibrary.org/obo/PR_000027393PR:000027393 located_in GO:0005886
http://purl.obolibrary.org/obo/PR_P11215integrin alpha-M (human)
http://purl.obolibrary.org/obo/UBERON_0012615umbilical smooth muscle
http://purl.obolibrary.org/obo/UBERON_0000642suspensory ligament of duodenum
http://purl.obolibrary.org/obo/GO_0106064regulation of cobalamin metabolic process
http://purl.obolibrary.org/obo/CHEBI_849812-aminoadipate(2-)
http://purl.obolibrary.org/obo/PR_000025180glucose-6-phosphate isomerase unmodified form
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1694CD69 (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1693CD68 (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1695CD7 (human)
HP:0008633Agonadism
HP:0008631Ureteral dysgenesis
HP:0008636Lobular glomerulopathy
HP:0008635Hypertrophy of the urinary bladder
http://purl.obolibrary.org/obo/GO_1900121negative regulation of receptor binding
http://purl.obolibrary.org/obo/GO_1900122positive regulation of receptor binding
http://purl.obolibrary.org/obo/GO_1900120regulation of receptor binding
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1683CD48 (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1685CD5 (human)
HP:0008640Congenital macroorchidism
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1681CD44 (human)
HP:0008647Pubertal developmental failure in females
HP:0008648Anteriorly displaced urethral meatus
http://purl.obolibrary.org/obo/GO_0060591chondroblast differentiation
http://purl.obolibrary.org/obo/CHEBI_33384L-serine zwitterion
http://purl.obolibrary.org/obo/GO_1900118negative regulation of execution phase of apoptosis
http://purl.obolibrary.org/obo/GO_1900119positive regulation of execution phase of apoptosis
http://purl.obolibrary.org/obo/GO_1900116extracellular negative regulation of signal transduction
http://purl.obolibrary.org/obo/GO_1900115extracellular regulation of signal transduction
http://purl.obolibrary.org/obo/GO_1900117regulation of execution phase of apoptosis
HP:0008651Uric acid urolithiasis independent of gout
HP:0000791Uric acid nephrolithiasis
HP:0008652Autonomic erectile dysfunction
HP:0100639Erectile dysfunction
HP:0008653Crescentic glomerulonephritis
HP:0000099Glomerulonephritis
HP:0000123Nephritis
HP:0008659Multiple small medullary renal cysts
HP:0008656Incomplete male pseudohermaphroditism
HP:0000037Male pseudohermaphroditism
http://purl.obolibrary.org/obo/GO_0060562epithelial tube morphogenesis
http://purl.obolibrary.org/obo/GO_0060560developmental growth involved in morphogenesis
HP:0008660Renotubular dysgenesis
HP:0008665Clitoral hypertrophy
HP:0008666Impaired histidine renal tubular absorption
HP:0008663Renal sarcoma
HP:0008664Urethral sphincter sclerosis
HP:0006008Unilateral brachydactyly
HP:0006006Hypotrophy of the small hand muscles
HP:0008668Gonadal dysgenesis, male
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1659CD33 (human)
http://purl.obolibrary.org/obo/GO_0060547negative regulation of necrotic cell death
http://purl.obolibrary.org/obo/GO_0060541respiratory system development
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1645CD24 (human)
HP:0008607Progressive conductive hearing impairment
HP:0008608Hypertrophic auricular cartilage
HP:0008605Unilateral external ear deformity
HP:0008606Supraauricular pit
http://purl.obolibrary.org/obo/GO_0035556intracellular signal transduction
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1678CD4 (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1674CD3E (human)
HP:0008610Infantile sensorineural hearing impairment
HP:0008615Adult onset sensorineural hearing impairment
HP:0008619Bilateral sensorineural hearing impairment
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1667CD38 (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1662CD34 (human)
HP:0008625Severe sensorineural hearing impairment
HP:0012714Severe hearing impairment
HP:0008629Pulsatile tinnitus
HP:0000360Tinnitus
HP:0008596Postlingual sensorineural hearing impairment
HP:0008593Prominent antitragus
HP:0008598Mild conductive hearing impairment
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1608CCR7 (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1603CCR2 (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1602CCR1 (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1604CCR3 (human)
http://purl.obolibrary.org/obo/CHEBI_23981ethanolamines
http://purl.obolibrary.org/obo/CHEBI_33306carbon group element atom
http://purl.obolibrary.org/obo/CHEBI_60924keratan sulfate
http://purl.obolibrary.org/obo/GO_1900074negative regulation of neuromuscular synaptic transmission
http://purl.obolibrary.org/obo/GO_0050805negative regulation of synaptic transmission
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1639CD2 (human)
http://purl.obolibrary.org/obo/GO_1900075positive regulation of neuromuscular synaptic transmission
http://purl.obolibrary.org/obo/GO_0050806positive regulation of synaptic transmission
http://purl.obolibrary.org/obo/GO_1900073regulation of neuromuscular synaptic transmission
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1633CD19 (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1628CD14 (human)
http://purl.obolibrary.org/obo/CHEBI_35987diamino acid
HP:0008555Absent vestibular function
http://purl.obolibrary.org/obo/CHEBI_33358cobalt group element atom
http://purl.obolibrary.org/obo/CHEBI_57305glycine zwitterion
HP:0008559Hypoplastic superior helix
HP:0008568Vestibular areflexia
HP:0008569Microtia, second degree
http://purl.obolibrary.org/obo/CHEBI_33340zinc group element atom
HP:0008573Low-frequency sensorineural hearing impairment
HP:0008572External ear malformation
http://purl.obolibrary.org/obo/PR_P25063signal transducer CD24 (human)
HP:0008591Congenital conductive hearing impairment
HP:0008583Underfolded superior helices
HP:0008577Underfolded helix
HP:0008588Slit-like opening of the exterior auditory meatus
HP:0008589Hypoplastic helices
HP:0008586Hypoplasia of the cochlea
HP:0008587Mild neurosensory hearing impairment
HP:0012712Mild hearing impairment
http://purl.obolibrary.org/obo/GO_0060495cell-cell signaling involved in lung development
http://purl.obolibrary.org/obo/CHEBI_119554-amino-3-hydroxybutanoate
http://purl.obolibrary.org/obo/CHEBI_35907glutarate(1-)
http://purl.obolibrary.org/obo/CHEBI_35915sterol ester
http://purl.obolibrary.org/obo/CHEBI_359102-oxo monocarboxylic acid
http://purl.obolibrary.org/obo/PR_000050060glucose-6-phosphate dehydrogenase
http://purl.obolibrary.org/obo/UBERON_0012504adventitia of esophagus
http://purl.obolibrary.org/obo/CHEBI_35931delta-amino acid
http://purl.obolibrary.org/obo/CHEBI_59905dopaminium(1+)
http://purl.obolibrary.org/obo/CHEBI_359504-oxo monocarboxylic acid
http://purl.obolibrary.org/obo/CHEBI_23966estrane
http://purl.obolibrary.org/obo/CHEBI_23965estradiol
HP:0008708Partial development of the penile shaft
HP:0008702Absent internal genitalia
HP:0008703Gonadal calcification
HP:0008706Distal urethral duplication
HP:0008707Absent scrotum
HP:0008705Ureteral triplication
http://zfin.org/action/marker/view/ZDB-GENE-980526-501tal1 (zebrafish)
http://purl.obolibrary.org/obo/PR_000049040PR:000049040 located_in GO:0005886
http://purl.obolibrary.org/obo/CHEBI_133294oxo dicarboxylic acid dianion
http://purl.obolibrary.org/obo/CHEBI_133291saturated dicarboxylic acid dianion(2-)
HP:0008750Laryngeal atresia
HP:0008753Aplasia of the epiglottis
HP:0008754Laryngeal calcification
http://purl.obolibrary.org/obo/GO_0060467negative regulation of fertilization
HP:0008751Laryngeal cleft
HP:0008752Laryngeal cartilage malformation
HP:0008757Unilateral vocal cord paralysis
http://purl.obolibrary.org/obo/GO_0060464lung lobe formation
http://purl.obolibrary.org/obo/CHEBI_59888gamma-aminobutyric acid zwitterion
HP:0008755Laryngotracheomalacia
HP:0002779Tracheomalacia
http://purl.obolibrary.org/obo/GO_0060463lung lobe morphogenesis
http://purl.obolibrary.org/obo/GO_0060462lung lobe development
HP:0008756Bowing of the vocal cords
HP:0008760Violent behavior
HP:0000718Aggressive behavior
HP:0008765Auditory hallucinations
HP:0008762Repetitive compulsive behavior
HP:0008763No social interaction
HP:0006107Fingerpad telangiectases
HP:0006106Absent trapezoid bone
http://purl.obolibrary.org/obo/GO_0060474positive regulation of flagellated sperm motility involved in capacitation
HP:0008767Self-mutilation of tongue and lips due to involuntary movements
HP:0000742Self-mutilation
HP:0100716Self-injurious behavior
http://www.informatics.jax.org/marker/MGI:98480Tal1 (mouse)
HP:0006108Tapered metacarpals
http://purl.obolibrary.org/obo/CHEBI_33263diatomic oxygen
http://purl.obolibrary.org/obo/CHEBI_33262elemental oxygen
http://purl.obolibrary.org/obo/CHEBI_33290food
http://purl.obolibrary.org/obo/CHEBI_33292fuel
HP:0006110Shortening of all middle phalanges of the fingers
HP:0008770Obsessive-compulsive trait
HP:0006114Multiple palmar creases
http://purl.obolibrary.org/obo/CHEBI_1332513-hydroxydicarboxylate(2-)
HP:0008773Aplasia/Hypoplasia of the middle ear
HP:0006112Expanded phalanges with widened medullary cavities
HP:0006118Shortening of all distal phalanges of the fingers
http://purl.obolibrary.org/obo/CHEBI_60895D-alpha-amino acid anion
http://purl.obolibrary.org/obo/CHEBI_33295diagnostic agent
http://purl.obolibrary.org/obo/CHEBI_33282antibacterial agent
HP:0006121Acral ulceration
HP:0008783Wide proximal femoral metaphysis
HP:0008780Congenital bilateral hip dislocation
HP:0008786Iliac crest serration
HP:0008784Wide capital femoral epiphyses
HP:0008785Delayed ossification of pubic rami
HP:0006129Drumstick terminal phalanges
http://purl.obolibrary.org/obo/CHEBI_33287fertilizer
http://purl.obolibrary.org/obo/GO_0060452positive regulation of cardiac muscle contraction
HP:0008788Delayed pubic bone ossification
HP:0006127Long proximal phalanx of finger
HP:0008789Cone-shaped capital femoral epiphysis
http://purl.obolibrary.org/obo/CHEBI_33286agrochemical
http://purl.obolibrary.org/obo/GO_0060425lung morphogenesis
http://purl.obolibrary.org/obo/UBERON_0012477dorsal part of neck
http://purl.obolibrary.org/obo/UBERON_0005434cervical region
http://purl.obolibrary.org/obo/UBERON_0012478cloacal gland
HP:0008714Ureterovesical stenosis
HP:0000071Ureteral stenosis
http://purl.obolibrary.org/obo/UBERON_0012475skeleton of pectoral complex
HP:0008711Benign prostatic hyperplasia
http://purl.obolibrary.org/obo/UBERON_0012476skeleton of pelvic complex
HP:0008717Unilateral renal atrophy
HP:0008718Unilateral renal dysplasia
HP:0000110Renal dysplasia
HP:0008715Testicular dysgenesis
HP:0008716Urethrovaginal fistula
http://purl.obolibrary.org/obo/UBERON_0012480cloacal mucosa
http://purl.obolibrary.org/obo/PR_P27548CD40 ligand (mouse)
http://purl.obolibrary.org/obo/UBERON_0012485cloacal villus
http://purl.obolibrary.org/obo/UBERON_0012482submucosa of cloaca
http://purl.obolibrary.org/obo/UBERON_0012483serosa of cloaca
HP:0008720Primary testicular failure
http://purl.obolibrary.org/obo/UBERON_0012488muscle layer of duodenum
HP:0008724Hypoplasia of the ovary
HP:0010462Aplasia/Hypoplasia of the ovary
HP:0008639Gonadal hypoplasia
http://purl.obolibrary.org/obo/UBERON_0012486muscle layer of cloaca
HP:0008722Urethral diverticulum
http://purl.obolibrary.org/obo/UBERON_0012487vaginal sphincter
HP:0008723Gonadal dysgenesis with female appearance, male
HP:0000133Gonadal dysgenesis
HP:0008729Absence of labia majora
HP:0008726Hypoplasia of the vagina
http://purl.obolibrary.org/obo/UBERON_0012490muscle layer of anal canal
http://purl.obolibrary.org/obo/GO_1902850microtubule cytoskeleton organization involved in mitosis
http://purl.obolibrary.org/obo/GO_0060407negative regulation of penile erection
http://purl.obolibrary.org/obo/GO_0060406positive regulation of penile erection
http://purl.obolibrary.org/obo/GO_0060405regulation of penile erection
HP:0008732Renal hypophosphatemia
HP:0008730Female external genitalia in individual with 46,XY karyotype
http://purl.obolibrary.org/obo/UBERON_0012499serosa of uterine tube
HP:0008733Dysplastic testes
HP:0008734Decreased testicular size
HP:0008739Labial pseudohypertrophy
http://purl.obolibrary.org/obo/CHEBI_305790thyroxine zwitterion
HP:0008738Partially duplicated kidney
HP:0008742Prominent prostate median bar
HP:0008743Coronal hypospadias
HP:0008740Longitudinal vaginal septum
HP:0008747Cartilaginous ossification of larynx
HP:0008744Abnormal aryepiglottic fold morphology
HP:0008749Laryngeal hypoplasia
http://purl.obolibrary.org/obo/UBERON_0012430tunica fibrosa of eyeball
http://purl.obolibrary.org/obo/UBERON_0000454cerebral subcortex
http://purl.obolibrary.org/obo/UBERON_0000457cavernous artery
HP:0006060Tombstone-shaped proximal phalanges
http://purl.obolibrary.org/obo/UBERON_0000459uterine wall
http://purl.obolibrary.org/obo/UBERON_0000458endocervix
HP:0006055Ulnar deviated club hands
HP:0009487Ulnar deviation of the hand
HP:0006059Cone-shaped metacarpal epiphyses
http://purl.obolibrary.org/obo/UBERON_0012437epithelial-mesenchymal boundary
HP:0006070Metacarpophalangeal joint contracture
HP:0006064Limited interphalangeal movement
HP:0006069Severe carpal ossification delay
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1516CAT (human)
http://purl.obolibrary.org/obo/UBERON_0000474female reproductive system
HP:0006077Absent proximal finger flexion creases
http://purl.obolibrary.org/obo/CHEBI_59826progestin
http://purl.obolibrary.org/obo/CHEBI_35871oxo monocarboxylic acid
http://purl.obolibrary.org/obo/UBERON_0012463cloacal lumen
http://purl.obolibrary.org/obo/CHEBI_47857ureas
HP:0006095Wide tufts of distal phalanges
HP:0006092Malaligned carpal bone
HP:00060881-5 finger complete cutaneous syndactyly
HP:0006086Thin metacarpal cortices
http://purl.obolibrary.org/obo/UBERON_0012466extraembryonic cavity
http://purl.obolibrary.org/obo/UBERON_0012464cloacal vent
http://purl.obolibrary.org/obo/UBERON_0012465lumen of terminal part of digestive tract
http://purl.obolibrary.org/obo/UBERON_0012468anal tooth
http://purl.obolibrary.org/obo/UBERON_0012469external anal region
HP:0031033Impaired urinary acidification
HP:0031032Decreased retinol-binding protein level
HP:0031031Abnormal retinol-binding protein level
HP:0031030Elevated carcinoma antigen 125 level
HP:0031037Reduced insulin-like factor 3 level
HP:0031036Reduced growth-hormone binding protein level
http://purl.obolibrary.org/obo/CHEBI_47868photosensitizing agent
http://purl.obolibrary.org/obo/UBERON_0000410bronchial mucosa
http://purl.obolibrary.org/obo/UBERON_0000415artery wall
HP:0008672Calcium oxalate nephrolithiasis
HP:0006011Cuboidal metacarpal
HP:0008670Partial vaginal septum
HP:0008676Congenital megaureter
HP:0008677Congenital nephrotic syndrome
http://purl.obolibrary.org/obo/CHEBI_598453-hydroxy fatty acid
HP:0008675Enlarged polycystic ovaries
HP:0000147Polycystic ovaries
HP:0100879Enlarged ovaries
HP:0006012Widened metacarpal shaft
HP:0006019Reduced proximal interphalangeal joint space
HP:0031039Early spermatogenesis maturation arrest
HP:0006016Delayed phalangeal epiphyseal ossification
http://purl.obolibrary.org/obo/CHEBI_33234vitamin E
http://purl.obolibrary.org/obo/UBERON_0000428prostate epithelium
HP:0031022Oropharyngeal squamous papilloma
HP:0031021Squamous Papilloma
HP:0031020Bone marrow hypercellularity
http://purl.obolibrary.org/obo/UBERON_0000429enteric plexus
HP:0031026Snail-like ilia
HP:0031025Gastric leiomyosarcoma
HP:0031024Cylindroma
HP:0031023Multiple mucosal neuromas
http://purl.obolibrary.org/obo/CHEBI_45212diphosphate(2-)
HP:0008691Solitary bladder diverticulum
HP:0000015Bladder diverticulum
http://purl.obolibrary.org/obo/CHEBI_21241vitamin C
HP:0008683Enlarged labia minora
HP:0012880Abnormality of the labia minora
HP:0000065Labial hypertrophy
HP:0008684Aplasia/hypoplasia of the uterus
HP:0008682Renal tubular epithelial necrosis
HP:0008687Hypoplasia of the prostate
HP:0006026Rounded epiphyses
http://purl.obolibrary.org/obo/GO_0072377blood coagulation, common pathway
http://purl.obolibrary.org/obo/GO_0072378blood coagulation, fibrin clot formation
HP:0031029Elevated carcinoembryonic antigen level
HP:0008689Bilateral cryptorchidism
HP:0000028Cryptorchidism
HP:0031028Lactescent serum
http://purl.obolibrary.org/obo/CHEBI_33224chromane
HP:0006028Metaphyseal cupping of metacarpals
HP:0031027Internal notch of the femoral head
HP:0031011Fatty streak
http://purl.obolibrary.org/obo/UBERON_0000439arachnoid trabecula
HP:0031010Hyperphalangy of the 3rd finger
HP:0031015Intrahepatic portal vein sclerosis
HP:0031014Arteria lusoria
HP:0031012Thin-cap fibroatheroma
http://purl.obolibrary.org/obo/GO_1900158negative regulation of bone mineralization involved in bone maturation
http://purl.obolibrary.org/obo/GO_0030502negative regulation of bone mineralization
http://purl.obolibrary.org/obo/GO_1903011negative regulation of bone development
http://purl.obolibrary.org/obo/GO_1900159positive regulation of bone mineralization involved in bone maturation
http://purl.obolibrary.org/obo/GO_0030501positive regulation of bone mineralization
http://purl.obolibrary.org/obo/GO_1903012positive regulation of bone development
http://purl.obolibrary.org/obo/GO_1900157regulation of bone mineralization involved in bone maturation
http://purl.obolibrary.org/obo/GO_0030500regulation of bone mineralization
http://purl.obolibrary.org/obo/GO_1903010regulation of bone development
HP:0006040Long second metacarpal
HP:0010036Aplasia/Hypoplasia of the 2nd metacarpal
HP:0010493Long metacarpals
http://purl.obolibrary.org/obo/CHEBI_47880steroid ester
HP:0008695Transient nephrotic syndrome
HP:0000100Nephrotic syndrome
http://purl.obolibrary.org/obo/UBERON_0012418respiratory system venous smooth muscle
HP:0006035Cone-shaped epiphyses of phalanges 2 to 5
HP:0009412Cone-shaped epiphyses of the 3rd finger
HP:0009320Abnormality of the epiphyses of the 3rd finger
HP:0009395Cone-shaped epiphyses of the 4th finger
HP:0009174Abnormality of the epiphyses of the 4th finger
HP:0009490Cone-shaped epiphyses of the 2nd finger
HP:0008697Hypoplasia of the fallopian tube
HP:0031019Pyknotic bone marrow neutrophils
HP:0031018Eccrine syringofibroadenoma
HP:0031017Swiss cheese atrial septal defect
HP:0031016Alternating radiolucent and radiodense metaphyseal lines
http://purl.obolibrary.org/obo/UBERON_0012416respiratory system arterial smooth muscle
http://purl.obolibrary.org/obo/CHEBI_33253nucleon
http://purl.obolibrary.org/obo/CHEBI_33252atomic nucleus
HP:0031000Vestibular saccular degeneration
HP:0031004Hemiareflexia
HP:0031003Polyneuritis
HP:0031002Neuritis
HP:0031001Minifascicle formation
http://purl.obolibrary.org/obo/UBERON_0000442right testicular vein
http://purl.obolibrary.org/obo/UBERON_0000443left testicular vein
HP:0006051Metacarpal periosteal thickening
http://purl.obolibrary.org/obo/UBERON_0000446septum of telencephalon
http://purl.obolibrary.org/obo/GO_0072350tricarboxylic acid metabolic process
http://purl.obolibrary.org/obo/UBERON_0012429hematopoietic tissue
HP:0006048Distal widening of metacarpals
HP:0006045Short pointed phalanges
http://purl.obolibrary.org/obo/CHEBI_59876N-acyl-D-alpha-amino acid anion
http://purl.obolibrary.org/obo/GO_0060377negative regulation of mast cell differentiation
HP:0031008Lingual dystonia
http://purl.obolibrary.org/obo/GO_0072358cardiovascular system development
http://purl.obolibrary.org/obo/GO_0060376positive regulation of mast cell differentiation
HP:0031007Orofacial action-specific dystonia induced by speech
HP:0012179Craniofacial dystonia
http://purl.obolibrary.org/obo/GO_0072359circulatory system development
http://purl.obolibrary.org/obo/GO_0060375regulation of mast cell differentiation
HP:0031006Acroparesthesia
http://purl.obolibrary.org/obo/GO_0060374mast cell differentiation
HP:0031005Hyperalgesia
http://purl.obolibrary.org/obo/UBERON_0012425striated border microvillus layer
http://purl.obolibrary.org/obo/UBERON_0012423layer of microvilli
HP:0031009Ainhum
HP:0031076Impaired cortisol response to insulin stimulation test
HP:0031074Abnormal response to ACTH stimulation test
HP:0031079Impaired growth-hormone response to insulin stimulation test
HP:0031075Abnormal response to insulin tolerance test
HP:0031078Impaired cortisol response to corticotropin releasing hormone stimulation test
HP:0031077Abnormal response to corticotropin releasing hormone stimulation test
HP:0031070Decreased femoral torsion
HP:0031063Impaired feeding ability
HP:0031068Increased femoral torsion
HP:0031069Abnormal femoral torsion
HP:0031067Empty ovarian follicle
HP:0031062Impaired transferring ability
HP:0031061Impaired toileting ability
HP:0031060Impaired ability to dress oneself
HP:0031054Long segment coarctation of the aorta
HP:0031053Coarctation in the transverse aortic arch
HP:0031052Elevated vascular endothelial growth factor level
HP:0031059Impaired ability to bathe oneself
HP:0031057Skin fissure
HP:0031056Fusiform cerebral aneurysm
http://www.informatics.jax.org/marker/MGI:1921496Gale (mouse)
HP:0031050Whole-immunoglobulin paraproteinemia
HP:0031044Type A5 brachydactyly
HP:0031043Type A4 brachydactyly
HP:0031042Strawberry tongue
HP:0031041Obstruction of the superior vena cava
HP:0031048Light-chain paraproteinemia
HP:0031046Absent soft palate
HP:0031045Acral blistering
http://purl.obolibrary.org/obo/UBERON_0000400jejunal epithelium
HP:0031040Late spermatogenesis maturation arrest
HP:0031038Spermatogenesis maturation arrest
http://purl.obolibrary.org/obo/UBERON_0000402nasal vestibule
http://purl.obolibrary.org/obo/UBERON_0000401mandibular ramus
http://purl.obolibrary.org/obo/UBERON_0000403scalp
http://purl.obolibrary.org/obo/CHEBI_35808citrate(2-)
HP:0006099Metacarpophalangeal joint hyperextensibility
http://purl.obolibrary.org/obo/CHEBI_35804citrate(1-)
HP:0031098Decreased thyroid-stimulating hormone level
HP:0031097Abnormal thyroid-stimulating hormone level
HP:0031096Delayed vertebral ossification
HP:0031091Toe dactylitis
HP:0031090Finger dactylitis
HP:0031092Spindle-shaped finger
HP:0031088Vaginal dryness
HP:0031087Absent pubertal growth spurt
HP:0031086Ectopic ovary
HP:0031085Decreased prealbumin level
HP:0031089Palatal edema
HP:0031084Excessive insulin response to glucagon test
HP:0031083Abnormal response to human chorionic gonadotrophin stimulation test
HP:0031082Impaired growth-hormone response to glucagon stimulation test
HP:0031081Impaired cortisol response to glucagon stimulation test
HP:0031080Abnormal response to glucagon stimulation test
http://purl.obolibrary.org/obo/CHEBI_35825mandelic acid
http://purl.obolibrary.org/obo/CHEBI_35821anticholesteremic drug
http://purl.obolibrary.org/obo/CHEBI_35679antilipemic drug
HP:0008807Acetabular dysplasia
HP:0008808High iliac wings
HP:0008801Hypoplasia of the lesser trochanter
HP:0008802Hypoplasia of the femoral head
HP:0009108Aplasia/Hypoplasia involving the femoral head and neck
http://purl.obolibrary.org/obo/GO_0045117azole transmembrane transport
HP:0008804Broad femoral head
HP:0008818Large iliac wings
HP:0008819Narrow femoral neck
HP:0008812Flattened femoral head
http://purl.obolibrary.org/obo/CHEBI_606565N-benzoylglycinate
http://purl.obolibrary.org/obo/CHEBI_606564prostaglandin E2(1-)
HP:0008817Aplastic pubic bones
HP:0008829Delayed femoral head ossification
http://www.informatics.jax.org/marker/MGI:96558Il5ra (mouse)
http://www.informatics.jax.org/marker/MGI:96562Il7r (mouse)
HP:0008820Absent ossification of capital femoral epiphysis
HP:0008823Hypoplastic inferior pubic rami
HP:0008824Hypoplastic iliac body
HP:0008821Hypoplastic inferior ilia
HP:0000946Hypoplastic ilia
HP:0008822Hypoplastic ischiopubic rami
HP:0008828Delayed proximal femoral epiphyseal ossification
HP:0008826Dislocation of the femoral head
http://purl.obolibrary.org/obo/GO_0035735intraciliary transport involved in cilium assembly
HP:0006213Thin proximal phalanges with broad epiphyses of the hand
HP:0006210Postaxial oligodactyly
HP:0006217Limited mobility of proximal interphalangeal joint
HP:0006216Single interphalangeal crease of fifth finger
HP:0006224Tapering pointed ends of distal finger phalanges
HP:0008883Mild intrauterine growth retardation
HP:0006228Valgus hand deformity
HP:0006226Osteoarthritis of the first carpometacarpal joint
HP:0006230Unilateral oligodactyly
HP:0008890Severe short-limb dwarfism
HP:0006234Osteolysis involving tarsal bones
HP:0006233Osteoarthritis of the distal interphalangeal joint
HP:0006232Expanded metacarpals with widened medullary cavities
http://purl.obolibrary.org/obo/GO_0070125mitochondrial translational elongation
HP:0006239Shortening of all middle phalanges of the toes
HP:0006236Slender metacarpals
http://purl.obolibrary.org/obo/GO_0045182translation regulator activity
http://purl.obolibrary.org/obo/GO_0070130negative regulation of mitochondrial translation
http://purl.obolibrary.org/obo/GO_0070131positive regulation of mitochondrial translation
http://purl.obolibrary.org/obo/GO_0070129regulation of mitochondrial translation
http://purl.obolibrary.org/obo/GO_0062125regulation of mitochondrial gene expression
HP:0006243Phalangeal dislocation
http://purl.obolibrary.org/obo/UBERON_0012351urachal lumen
http://purl.obolibrary.org/obo/UBERON_0000376hindlimb stylopod
http://purl.obolibrary.org/obo/UBERON_0000375mandibular nerve
http://purl.obolibrary.org/obo/UBERON_0000377maxillary nerve
HP:0008830Hypoplastic pubic rami
http://purl.obolibrary.org/obo/GO_0060786regulation of cell differentiation involved in tissue homeostasis
http://purl.obolibrary.org/obo/GO_0060785regulation of apoptosis involved in tissue homeostasis
http://purl.obolibrary.org/obo/UBERON_0012356pedal acropodium region
http://purl.obolibrary.org/obo/GO_0060784regulation of cell proliferation involved in tissue homeostasis
HP:0008835Multicentric femoral head ossification
http://purl.obolibrary.org/obo/UBERON_0012355manual acropodium region
http://purl.obolibrary.org/obo/UBERON_0012354acropodium region
HP:0008833Irregular acetabular roof
HP:0008838Stippled calcification proximal humeral epiphyses
HP:0008839Hypoplastic pelvis
http://purl.obolibrary.org/obo/UBERON_0012361internal anal region
http://purl.obolibrary.org/obo/UBERON_0000389lens cortex
http://purl.obolibrary.org/obo/UBERON_0000388epiglottis
http://purl.obolibrary.org/obo/UBERON_0000383musculature of body
HP:0008845Mesomelic short stature
HP:0008846Severe intrauterine growth retardation
HP:0008843Hip osteoarthritis
HP:0008848Moderately short stature
http://purl.obolibrary.org/obo/UBERON_0012375subserosa
http://purl.obolibrary.org/obo/PR_000049328PR:000049328 located_in GO:0005886
http://purl.obolibrary.org/obo/UBERON_0012373sympathetic nerve plexus
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3618FCGR2B (human)
http://purl.obolibrary.org/obo/UBERON_0000399jejunal mucosa
http://purl.obolibrary.org/obo/UBERON_0000390lens nucleus
HP:0008850Severe postnatal growth retardation
http://purl.obolibrary.org/obo/GO_0060764cell-cell signaling involved in mammary gland development
http://purl.obolibrary.org/obo/UBERON_0000395cochlear ganglion
http://purl.obolibrary.org/obo/UBERON_0012378muscle layer of urinary bladder
http://purl.obolibrary.org/obo/GO_0060761negative regulation of response to cytokine stimulus
HP:0008857Neonatal short-trunk short stature
http://purl.obolibrary.org/obo/GO_0060760positive regulation of response to cytokine stimulus
http://purl.obolibrary.org/obo/GO_0060759regulation of response to cytokine stimulus
http://purl.obolibrary.org/obo/UBERON_0012377muscle layer of jejunum
HP:0008855Moderate postnatal growth retardation
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3609FCER1A (human)
http://purl.obolibrary.org/obo/GO_0045144meiotic sister chromatid segregation
http://purl.obolibrary.org/obo/GO_0045132meiotic chromosome segregation
http://purl.obolibrary.org/obo/GO_0033152immunoglobulin V(D)J recombination
http://purl.obolibrary.org/obo/GO_0033151V(D)J recombination
HP:0006202Osteolysis of scaphoids
HP:0006201Hypermobility of distal interphalangeal joints
HP:0006200Widened distal phalanges
HP:0006206Hypersegmentation of proximal phalanx of second finger
HP:0006205Irregular phalanges
HP:0008866Failure to thrive secondary to recurrent infections
HP:0006203Decreased movement range in interphalangeal joints
HP:0006209Partial-complete absence of 5th phalanges
HP:0006208Metaphyseal cupping of proximal phalanges
HP:0006207Partial fusion of carpals
HP:0031110Twin-to-twin transfusion
HP:0031111Cutaneous hamartoma
http://purl.obolibrary.org/obo/UBERON_0000332yellow bone marrow
http://purl.obolibrary.org/obo/UBERON_0000331ileal mucosa
http://purl.obolibrary.org/obo/UBERON_0000333intestinal gland
HP:0006180Crowded carpal bones
HP:0006176Two carpal ossification centers present at birth
HP:0006067Multiple carpal ossification centers
HP:0006175Proximal phalangeal periosteal thickening
http://purl.obolibrary.org/obo/UBERON_0012318anterior ethmoidal artery
HP:0006174Metacarpal diaphyseal endosteal sclerosis
http://purl.obolibrary.org/obo/UBERON_0012319posterior ethmoidal artery
http://purl.obolibrary.org/obo/UBERON_0005193ethmoidal artery
HP:0006179Pseudoepiphyses of second metacarpal
HP:0010220Abnormality of the epiphysis of the 2nd metacarpal
HP:0009193Pseudoepiphyses of the metacarpals
http://purl.obolibrary.org/obo/UBERON_0012312maxillary process ectoderm
http://purl.obolibrary.org/obo/UBERON_00123131st arch maxillary ectoderm
HP:0031117Purely bicuspid aortic valve
http://purl.obolibrary.org/obo/UBERON_0012317vagina orifice
HP:0031119Bicuspid aortic valve with right-left cusp fusion
HP:0031103Decreased antimullerian hormone level
HP:0031102Increased antimullerian hormone level
HP:0031101Abnormal antimullerian hormone level
HP:0031100Decreased inhibin B level
HP:0031099Abnormal circulating inhibin level
HP:0006190Radially deviated wrists
http://purl.obolibrary.org/obo/UBERON_0000345myelin
http://purl.obolibrary.org/obo/UBERON_0000347entire myelin sheath
HP:0006193Thimble-shaped middle phalanges of hand
http://purl.obolibrary.org/obo/UBERON_0000349limbic system
HP:0006191Deep palmar crease
http://purl.obolibrary.org/obo/UBERON_0000348ophthalmic nerve
HP:0006187Fusion of midphalangeal joints
HP:0006185Enlarged proximal interphalangeal joints
HP:0006247Enlarged interphalangeal joints
HP:0006184Decreased palmar creases
HP:0010488Aplasia/Hypoplasia of the palmar creases
HP:0006189Prominent interdigital folds
HP:0031107Decreased fibular diameter
http://purl.obolibrary.org/obo/CHEBI_33541thiosulfate(1-)
HP:0031106T-shaped uterus
http://purl.obolibrary.org/obo/CHEBI_33540thiosulfuric acid
http://purl.obolibrary.org/obo/UBERON_0012321deep cervical artery
http://purl.obolibrary.org/obo/CHEBI_33543sulfonate
HP:0031104Insulin receptor antibody positivity
HP:0031109Agalactia
HP:0031094Abnormal breast physiology
HP:0031108Triceps weakness
http://purl.obolibrary.org/obo/UBERON_0000358blastocyst
http://purl.obolibrary.org/obo/UBERON_0000351nuchal ligament
http://purl.obolibrary.org/obo/UBERON_0012332broad ligament of uterus
http://purl.obolibrary.org/obo/CHEBI_45557sec-butyl group
http://purl.obolibrary.org/obo/UBERON_0000369corpus striatum
http://purl.obolibrary.org/obo/CHEBI_33569noradrenaline
http://purl.obolibrary.org/obo/UBERON_0000362renal medulla
http://purl.obolibrary.org/obo/CHEBI_33568adrenaline
HP:0031154Beaded vitreous appearance
HP:0031153Membranous vitreous appearance
HP:0031152Full-thickness macular hole
http://purl.obolibrary.org/obo/NCBITaxon_7742http://purl.obolibrary.org/obo/NCBITaxon_7742
HP:0031151Vitreomacular traction
HP:0031158Widened atrophic scar
HP:0031157Carotid cavernous fistula
HP:0031156Decreased platelet glycoprotein Ib
HP:0031155Increased Arden ratio of electrooculogram
HP:0031150Vitreomacular adhesion
http://purl.obolibrary.org/obo/UBERON_0002956granular layer of cerebellar cortex
HP:0008794Dysplastic iliac wings
HP:0008797Early ossification of capital femoral epiphyses
HP:0006136Bilateral postaxial polydactyly
HP:0008798Widened greater sciatic notch
HP:0008796Externally rotated hips
http://purl.obolibrary.org/obo/UBERON_0014930perivascular space
HP:0031159Thinning of Descemet membrane
http://purl.obolibrary.org/obo/UBERON_0036301vasculature of spleen
http://purl.obolibrary.org/obo/UBERON_0036304anatomical border
HP:0031143Decreased hepatic echogenicity
http://purl.obolibrary.org/obo/UBERON_0000307blastula
http://purl.obolibrary.org/obo/UBERON_0000309body wall
HP:0031141Increased hepatic echogenicity
HP:0031142Abnormal hepatic echogenicity
HP:0031146Impaired oral bolus formation
HP:0031145Starry sky appearance on hepatic sonography
HP:0031144Coarsened hepatic echotexture
HP:0031140Abnormal liver sonography
HP:0006150Swan neck-like deformities of the fingers
http://purl.obolibrary.org/obo/UBERON_0000303adductor longus
http://purl.obolibrary.org/obo/UBERON_0000305amnion
http://purl.obolibrary.org/obo/UBERON_0000304tendon sheath
HP:0006140Premature fusion of phalangeal epiphyses
HP:0006147Progressive fusion 2nd-5th pip joints
HP:0006146Broad metacarpal epiphyses
HP:0006134Enlarged metacarpal epiphyses
HP:0006145Central Y-shaped metacarpal
HP:0006042Y-shaped metacarpals
HP:0006144Shortening of all proximal phalanges of the fingers
HP:0010241Short proximal phalanx of finger
HP:0006149Increased laxity of fingers
HP:0031130Impaired calcium ionophore-induced platelet aggregation
HP:0031136Decreased acrosin in sperm head
HP:0031134Cor triatrium sinister
HP:0031133Increased annexin V binding to platelet phosphatidylserine
HP:0031132Impaired annexin V binding to platelet phosphatidylserine
HP:0031131Abnormal platelet phosphatidylserine exposure
HP:0006161Short metacarpals with rounded proximal ends
HP:0006160Irregular metacarpals
http://purl.obolibrary.org/obo/UBERON_0000313portion of cartilage tissue in tibia
http://purl.obolibrary.org/obo/UBERON_0007391pelvic appendage cartilage tissue
http://purl.obolibrary.org/obo/UBERON_0000316cervical mucus
http://purl.obolibrary.org/obo/UBERON_0000315subarachnoid space
HP:0006153Disharmonious carpal bone
HP:0006157Prominent palmar flexion creases
HP:0006156Ulnar deviation of thumb
HP:0009465Ulnar deviation of finger
HP:0006155Long phalanx of finger
HP:0031139Frog-leg posture
HP:0031121Bicuspid aortic valve with left-noncoronary cusp fusion
HP:0031120Bicuspid aortic valve with right-noncoronary cusp fusion
HP:0031118Single raphe bicuspid aortic valve
HP:0031125Decreased platelet alpha-2A-adrenergic receptor
HP:0031124Decreased platelet thromboxane A2 receptor
HP:0031123Recurrent gastroenteritis
HP:0031122Two-raphe bicuspid aortic valve
http://purl.obolibrary.org/obo/UBERON_0000320duodenal mucosa
http://purl.obolibrary.org/obo/UBERON_0000323late embryo
HP:0006172Flattened, squared-off epiphyses of tubular bones
http://purl.obolibrary.org/obo/UBERON_0002988first dorsal interosseous of manus
HP:0006170Chess-pawn distal phalanges
http://purl.obolibrary.org/obo/UBERON_0000326pancreatic juice
HP:0006165Proportionate shortening of all digits
HP:0006163Enlarged metacarpophalangeal joints
HP:0006162Soft tissue swelling of interphalangeal joints
HP:0006169Decreased mobility 3rd-5th fingers
HP:0006135Decreased finger mobility
HP:0006167Prominent proximal interphalangeal joints
HP:0006237Prominent interphalangeal joints
HP:0006166Tubular metacarpal bones
HP:0031129Impaired phorbol myristate acetate-induced platelet aggregation
HP:0031128Impaired collagen-related peptide-induced platelet aggregation
HP:0031127Impaired convulxin-induced platelet aggregation
HP:0031126Impaired clot retraction
HP:0031198Renal tubular epithelial cell casts
HP:0031197Cellular urinary casts
HP:0031196Thin myocardium compact layer
http://purl.obolibrary.org/obo/UBERON_0002916central sulcus
HP:0031195Apical hypertrabeculation of the left ventricle
HP:0031190Superficial dermal perivascular inflammatory infiltrate
HP:0031194Increased density of left ventricular trabeculae
HP:0031193Abnormal morphology of right ventricular trabeculae
HP:0031191Deep dermal perivascular inflammatory infiltrate
HP:0031187Abnormality of circulating pregnenolone level
http://purl.obolibrary.org/obo/UBERON_0002925trigeminal nucleus
HP:0031186Abnormal circulating deoxycorticosterone level
HP:0031185Increased NT-proBNP level
HP:0031138Abnormal B-type natriuretic peptide level
http://purl.obolibrary.org/obo/UBERON_0002928dentate gyrus polymorphic layer
HP:0031189Wrist drop
HP:0031188Genital edema
http://purl.obolibrary.org/obo/UBERON_0002921longitudinal fissure
HP:0031181Necrolytic migratory erythema
http://www.informatics.jax.org/marker/MGI:96616Itgb7 (mouse)
HP:0031180Erythema migrans
http://purl.obolibrary.org/obo/UBERON_0014903primordial vasculature
HP:0031176Absent thoracic vertebra
HP:0031175Absent cervical vertebra
HP:0008465Absent vertebra
HP:0031174Double-layered patella
HP:0031173Tibial spur
HP:0031179Nuchal rigidity
HP:0031178Fixed head retroflexion
HP:0031177Finger flexor weakness
http://www.informatics.jax.org/marker/MGI:96601Itga2b (mouse)
HP:0031172Sectoral retinitis pigmentosa
http://www.informatics.jax.org/marker/MGI:96607Itgam (mouse)
HP:0031171Femoral spur
HP:0031170Female fetal virilization
HP:0031165Multifocal seizures
HP:0031164Growth arrest lines
HP:0031163Low femoral bone density
HP:0031162Impaired oropharyngeal swallow response
HP:0031169Postterm pregnancy
HP:0031167Triggered by ingestion of potassium-rich food
HP:0031166Eyelid myokymia
HP:0031161Reduced brain glutamate level by MRS
HP:0031160Myelokathexis
HP:0012135Abnormal granulocytopoietic cell morphology
http://purl.obolibrary.org/obo/CHEBI_33504alkali metal cation
HP:0008915Childhood-onset truncal obesity
HP:0008929Asymmetric short stature
http://purl.obolibrary.org/obo/UBERON_0036295renal pelvis/ureter
http://purl.obolibrary.org/obo/UBERON_0036290myocardium of anterior wall of left ventricle
http://purl.obolibrary.org/obo/UBERON_0036291myocardium of anterior wall of right ventricle
http://purl.obolibrary.org/obo/GO_0033048negative regulation of mitotic sister chromatid segregation
http://purl.obolibrary.org/obo/GO_0033046negative regulation of sister chromatid segregation
http://purl.obolibrary.org/obo/GO_0033047regulation of mitotic sister chromatid segregation
http://purl.obolibrary.org/obo/GO_0033045regulation of sister chromatid segregation
http://purl.obolibrary.org/obo/GO_0060632regulation of microtubule-based movement
HP:0008922Childhood-onset short-trunk short stature
HP:0008921Neonatal short-limb short stature
http://purl.obolibrary.org/obo/UBERON_0036288anterior wall of left ventricle
http://purl.obolibrary.org/obo/UBERON_0036289anterior wall of right ventricle
http://purl.obolibrary.org/obo/UBERON_0036286wall of right ventricle
http://purl.obolibrary.org/obo/UBERON_0036285wall of left ventricle
http://purl.obolibrary.org/obo/GO_0060606tube closure
HP:0008935Generalized neonatal hypotonia
HP:0008936Muscular hypotonia of the trunk
HP:0008940Generalized lymphadenopathy
HP:0008945Loss of ability to walk in early childhood
HP:0008942Acute rhabdomyolysis
HP:0008948Proximal upper limb amyotrophy
HP:0008946Pelvic girdle amyotrophy
HP:0008947Infantile muscular hypotonia
HP:0008909Lethal short-limbed short stature
http://purl.obolibrary.org/obo/UBERON_0012276endometrium glandular epithelium
http://purl.obolibrary.org/obo/UBERON_0007589ciliated columnar oviduct epithelium
HP:0008991Exercise-induced leg cramps
HP:0006330Rotated maxillary central incisors
HP:0006334Hypoplasia of the primary teeth
HP:0006333Crowded maxillary incisors
HP:0008993Increased intraabdominal fat
HP:0006332Supernumerary maxillary incisor
HP:0006338Malformation of mandibular premolar
HP:0006337Premature eruption of permanent teeth
HP:0008997Proximal muscle weakness in upper limbs
HP:0006336Short dental roots
http://purl.obolibrary.org/obo/UBERON_0012278gland of nasal mucosa
HP:0006335Persistence of primary teeth
http://purl.obolibrary.org/obo/UBERON_0036224corticobulbar and corticospinal tracts
HP:0006339Conical mandibular incisor
http://purl.obolibrary.org/obo/UBERON_0012282mammary fat pad
http://purl.obolibrary.org/obo/UBERON_0012283femoral fat pad
http://purl.obolibrary.org/obo/UBERON_0036212intertragic incisure
http://purl.obolibrary.org/obo/GO_0008015blood circulation
http://purl.obolibrary.org/obo/GO_0003013circulatory system process
HP:0006344Abnormality of primary molar morphology
HP:0006342Peg-shaped maxillary lateral incisors
HP:0006349Agenesis of permanent teeth
http://purl.obolibrary.org/obo/GO_0035630bone mineralization involved in bone maturation
HP:0006347Microdontia of primary teeth
HP:0006346Screwdriver-shaped incisors
http://purl.obolibrary.org/obo/UBERON_0036214rectosigmoid junction
http://purl.obolibrary.org/obo/UBERON_0012291lateral malleolus of fibula
http://purl.obolibrary.org/obo/UBERON_0012292embryonic cloacal fold
http://purl.obolibrary.org/obo/UBERON_0012290fused carpal bones 2 and 3
HP:0006352Failure of eruption of permanent teeth
HP:0006350Obliteration of the pulp chamber
HP:0006353Hypoplasia of the tooth germ
http://purl.obolibrary.org/obo/UBERON_0012299mucosa of urethra
HP:0006358Shovel-shaped maxillary central incisors
HP:0006357Premature loss of permanent teeth
http://purl.obolibrary.org/obo/CHEBI_57485carnosine zwitterion
HP:0006370Distal ulnar epiphyseal stippling
HP:0006362Varus deformity of humeral neck
HP:0006367Crumpled long bones
HP:0006366Adductor longus contractures
HP:0006369Irregular patellae
HP:0006368Forearm reduction defects
http://purl.obolibrary.org/obo/UBERON_0036264zygomaticotemporal nerve
http://purl.obolibrary.org/obo/UBERON_0014890right hemisphere of cerebellum
http://purl.obolibrary.org/obo/UBERON_0036267vulval vein
HP:0031311Middle cerebral artery calcification
http://purl.obolibrary.org/obo/UBERON_0036262uterine ligament
HP:0031310Basilar artery calcification
http://purl.obolibrary.org/obo/GO_0033001Fc-gamma receptor III complex
http://purl.obolibrary.org/obo/GO_0032997Fc receptor complex
HP:0031316Abnormal ventricular myocardium morphology
HP:0008955Progressive distal muscular atrophy
HP:0031315External carotid artery calcification
http://purl.obolibrary.org/obo/UBERON_0012236intercostal lymph node
http://purl.obolibrary.org/obo/UBERON_0007644thoracic lymph node
HP:0031313Abdominal aortic calcification
HP:0008954Intrinsic hand muscle atrophy
http://purl.obolibrary.org/obo/UBERON_0036268pelvic vein
http://purl.obolibrary.org/obo/UBERON_0012239urinary bladder vasculature
HP:0008959Distal upper limb muscle weakness
HP:0031319Cardiomyocyte hypertrophy
HP:0031318Myofiber disarray
HP:0031317Fatty replacement of ventricular myocardial tissue
http://purl.obolibrary.org/obo/UBERON_0012242internal urethral orifice
http://purl.obolibrary.org/obo/PR_P29965CD40 ligand (human)
HP:0031300Abnormal circulating properdin level
http://purl.obolibrary.org/obo/UBERON_0012241male urethral meatus
http://purl.obolibrary.org/obo/PR_P17931galectin-3 (human)
HP:0008962Calf muscle hypoplasia
HP:0008963Tibialis muscle weakness
HP:0031305Tibial arterial calcification
HP:0008967Exercise-induced muscle stiffness
HP:0031304Iliac arterial calcification
http://purl.obolibrary.org/obo/UBERON_0012247cervical gland
HP:0031303Femoral arterial calcification
HP:0008964Nonprogressive muscular atrophy
HP:0031302Lower extremity peripheral arterial calcification
HP:0031301Peripheral arterial calcification
HP:0006302Dagger-shaped pulp calcifications
HP:0031309Cerebral artery calcification
HP:0006308Atrophy of alveolar ridges
HP:0031308Vertebral artery calcification
http://purl.obolibrary.org/obo/UBERON_0012248cervical mucosa
HP:0031307Internal carotid artery calcification
HP:0031314Carotid artery calcification
HP:0031306Intracranial arterial calcification
http://purl.obolibrary.org/obo/UBERON_0012249ectocervix
HP:0008969Leg muscle stiffness
http://purl.obolibrary.org/obo/UBERON_0036242post-embryonic notochord
http://purl.obolibrary.org/obo/UBERON_0036243vaginal fluid
http://purl.obolibrary.org/obo/UBERON_0036245parenchyma of mammary gland
http://purl.obolibrary.org/obo/UBERON_0012253cervical squamo-columnar junction
http://purl.obolibrary.org/obo/UBERON_0012251ectocervical epithelium
http://purl.obolibrary.org/obo/UBERON_0012252endocervical epithelium
http://purl.obolibrary.org/obo/UBERON_0012250cervix glandular epithelium
HP:0008970Scapulohumeral muscular dystrophy
http://purl.obolibrary.org/obo/PR_P17947PR:P17947 located_in GO:0005654
HP:0006311Generalized microdontia
HP:0006316Irregularly spaced teeth
HP:0008978Necrotizing myopathy
HP:0006315Single median maxillary incisor
HP:0006313Widely spaced primary teeth
HP:0000687Widely spaced teeth
http://purl.obolibrary.org/obo/UBERON_0036246incudostapedial joint
http://purl.obolibrary.org/obo/UBERON_0036247incudomallear joint
http://purl.obolibrary.org/obo/UBERON_0036248joint of auditory ossicle
http://zfin.org/action/marker/view/ZDB-GENE-000210-20cat (zebrafish)
HP:0008981Calf muscle hypertrophy
HP:0008984Neck muscle hypoplasia
HP:0006323Premature loss of primary teeth
HP:0008985Increased intramuscular fat
HP:0009126Increased adipose tissue
HP:0009025Increased connective tissue
HP:0006321Multiple non-erupting secondary teeth
HP:0006326Buried teeth encased in mucopolysaccharide
HP:0008986Agenesis of the diaphragm
HP:0006329Alveolar process hypoplasia
http://purl.obolibrary.org/obo/UBERON_0000219vertebral foramen of atlas
HP:0031231Narrow incisura width
HP:0031230Decreased incisura length
http://purl.obolibrary.org/obo/UBERON_0000218vertebral arch of axis
HP:0031235Predominantly epidermal neutrophilic infiltrate
HP:0031233Horizontal inferior border of scapula
HP:0031232Increased incisura width
http://purl.obolibrary.org/obo/UBERON_0000210tetrapod parietal bone
http://purl.obolibrary.org/obo/UBERON_0002871hypoglossal nucleus
HP:0006298Prolonged bleeding after dental extraction
http://purl.obolibrary.org/obo/UBERON_0014852chorda tendinea of right ventricle
HP:0031239Extrafoveal choroidal neovascularization
http://purl.obolibrary.org/obo/UBERON_0014851chorda tendinea of left ventricle
HP:0031238Necklace skeletal muscle fibers
HP:0031237Internally nucleated skeletal muscle fibers
http://purl.obolibrary.org/obo/PR_O93507T-cell acute lymphocytic leukemia protein 1 homolog (zebrafish)
HP:0031236Predominantly dermal neutrophilic infiltrate
HP:0031234Neutrophilic infiltration of the skin
http://purl.obolibrary.org/obo/CHEBI_33432monoatomic chlorine
http://purl.obolibrary.org/obo/CHEBI_33433monoatomic halogen
http://purl.obolibrary.org/obo/CHEBI_33431elemental chlorine
http://purl.obolibrary.org/obo/CHEBI_33434elemental halogen
HP:0031220Increased radioactive iodine uptake
http://purl.obolibrary.org/obo/PR_P15391B-lymphocyte antigen CD19 (human)
HP:0031224Diffuse pancreatic islet hyperplasia
HP:0031223Focal pancreatic islet hyperplasia
HP:0031222Increased circulating thyroxine-binding globulin level
http://purl.obolibrary.org/obo/UBERON_0000220atlanto-occipital joint
HP:0031227Nasopharyngeal teratoma
HP:0031226Perinephric fluid collection
HP:0031225Intrapulmonary shunt
HP:0031229Increased incisura length
HP:0031228Abnormal incisura morphology
HP:0031213Elevated circulating 17-hydroxyprogesterone
http://purl.obolibrary.org/obo/UBERON_0014872distal epiphysis of distal phalanx of pedal digit 2
HP:0031211Elevated cholesterol ester level
http://purl.obolibrary.org/obo/UBERON_0014871distal epiphysis of distal phalanx of pedal digit 1
HP:0031210Abnormal circulating hyaluronic acid concentration
http://purl.obolibrary.org/obo/UBERON_0014874distal epiphysis of distal phalanx of pedal digit 4
HP:0031217Hot flashes
http://purl.obolibrary.org/obo/UBERON_0014873distal epiphysis of distal phalanx of pedal digit 3
HP:0031216Increased circulating progesterone
HP:0031215Decreased circulating dehydroepiandrosterone-sulfate level
http://purl.obolibrary.org/obo/UBERON_0014875distal epiphysis of distal phalanx of pedal digit 5
http://purl.obolibrary.org/obo/UBERON_0014876distal epiphysis of distal phalanx of pedal digit
HP:0031214Decreased circulating dehydroepiandrosterone level
HP:0031219Reduced radioactive iodine uptake
HP:0031221Abnormal radioactive iodine uptake test result
HP:0031218Inappropriate antidiuretic hormone secretion
http://purl.obolibrary.org/obo/UBERON_0014881distal epiphysis of distal phalanx of manual digit 1
HP:0031202Waxy casts
HP:0031201Granular casts
HP:0031200Hyaline casts
http://purl.obolibrary.org/obo/UBERON_0014883distal epiphysis of distal phalanx of manual digit 3
http://purl.obolibrary.org/obo/UBERON_0014882distal epiphysis of distal phalanx of manual digit 2
HP:0031206Striatal T2 hyperintensity
http://purl.obolibrary.org/obo/UBERON_0014885distal epiphysis of distal phalanx of manual digit 5
http://purl.obolibrary.org/obo/UBERON_0014884distal epiphysis of distal phalanx of manual digit 4
HP:0031205Reduced lysosomal acid lipase activity
HP:0031204Bacterial cell casts
http://purl.obolibrary.org/obo/UBERON_0014886distal epiphysis of distal phalanx of manual digit
http://purl.obolibrary.org/obo/UBERON_0014887distal epiphysis of distal phalanx of digit
HP:0031203Fatty casts
http://purl.obolibrary.org/obo/UBERON_0014889left hemisphere of cerebellum
HP:0031209Decreased lipoprotein lipase level
HP:0031208Increased pituitary glycoprotein hormone alpha subunit level
HP:0031207Hepatic hemangioma
HP:0031275Distributive shock
HP:0031274Hypovolemic shock
HP:0031272Pulmonary arterial atherosclerosis
HP:0031278Abnormal thoracic duct morphology
HP:0031276Obstructive shock
HP:0031271Absent ankle pulse
HP:0031270Decreased CD25 upregulation upon TCR activation
HP:0006253Swelling of proximal interphalangeal joints
HP:0006252Interphalangeal joint erosions
HP:0006251Limited wrist extension
HP:0006248Limited wrist movement
HP:0031261Bladder polyp
HP:0031268Decreased CD69 upregulation upon TCR activation
HP:0031267Abnormal CD69 upregulation upon TCR activation
HP:0031266Podocyte foot process effacement
HP:0031260Triangular tibia
HP:0006270Hypoplastic spleen
HP:0006264Aplasia/Hypoplasia of the 2nd finger
HP:0006263Abnormality of the epiphyses of the 2nd finger
HP:0006268Fluctuating splenomegaly
HP:0006266Small placenta
http://purl.obolibrary.org/obo/CHEBI_57433sarcosine zwitterion
http://purl.obolibrary.org/obo/CHEBI_66884N-alkylglycine zwitterion
HP:0031269Abnormal CD25 upregulation upon TCR activation
HP:0031253Anomalous origin of left subclavian artery
HP:0031252Dilated left subclavian artery
HP:0031250Lip fissure
HP:0031257Arteriovenous malformation of the maxilla
HP:0031256Optic nerve arteriovenous malformation
HP:0031255Hypothalamic arteriovenous malformation
HP:0031254Thalamic arteriovenous malformation
HP:0006282Generalized hypoplasia of dental enamel
HP:0006280Chronic pancreatitis
HP:0006274Reduced pancreatic beta cells
HP:0006273Pancreatic lymphangiectasis
HP:0006279Beta-cell dysfunction
HP:0006278Ectopic pancreatic tissue
HP:0006277Pancreatic hyperplasia
HP:0006276Hyperechogenic pancreas
HP:0031259Oophoritis
HP:0031258Delirium
HP:0031242Decreased circulating chylomicron concentration
HP:0031241Subfoveal choroidal neovascularization
HP:0031240Juxtafoveal choroidal neovascularization
http://purl.obolibrary.org/obo/UBERON_0000209tetrapod frontal bone
HP:0031246Nonproductive cough
HP:0031245Productive cough
HP:0031244Swollen lip
HP:0031243Decreased VLDL cholesterol concentration
http://purl.obolibrary.org/obo/UBERON_0000204ventral part of telencephalon
http://purl.obolibrary.org/obo/UBERON_0000203pallium
HP:0006291Marked delay in eruption of permanent teeth
HP:0000696Delayed eruption of permanent teeth
HP:0000684Delayed eruption of teeth
HP:0006290Discolored lateral incisors
HP:0006286Yellow-brown discoloration of the teeth
http://purl.obolibrary.org/obo/UBERON_0014848tendon of quadriceps femoris
HP:0006283Multiple unerupted teeth
http://purl.obolibrary.org/obo/PR_P15379CD44 antigen (mouse)
HP:0006288Advanced eruption of teeth
HP:0031249Parageusia
HP:0031248Palmar pruritus
HP:0031247Whooping cough
HP:0012735Cough
http://purl.obolibrary.org/obo/UBERON_0014847vastus intermedius
http://purl.obolibrary.org/obo/PR_000050171IgD immunoglobulin complex, circulating (human)
http://purl.obolibrary.org/obo/PR_000050170IgD immunoglobulin complex (human)
http://purl.obolibrary.org/obo/UBERON_0002803right parietal lobe
http://purl.obolibrary.org/obo/UBERON_0002804left limbic lobe
http://purl.obolibrary.org/obo/UBERON_0002805right limbic lobe
http://purl.obolibrary.org/obo/UBERON_0002808left temporal lobe
http://purl.obolibrary.org/obo/UBERON_0002809right temporal lobe
http://purl.obolibrary.org/obo/UBERON_0002802left parietal lobe
HP:0031297Unroofed coronary sinus
HP:0031296Atrial septal hypertrophy
HP:0031295Left atrial enlargement
HP:0031294Hypoplastic right atrium
HP:0031299Elevated left atrial pressure
HP:0031298Coronary sinus enlargement
http://purl.obolibrary.org/obo/UBERON_0002810right frontal lobe
HP:0031293Digital pitting scar
http://purl.obolibrary.org/obo/UBERON_0002811left frontal lobe
http://purl.obolibrary.org/obo/UBERON_0002812left cerebral hemisphere
HP:0031291Ichthyosis follicularis
http://purl.obolibrary.org/obo/UBERON_0002813right cerebral hemisphere
HP:0031290Tuberous xanthoma
HP:0031286Perifollicular erythema
http://purl.obolibrary.org/obo/UBERON_0002827vestibulocochlear ganglion
HP:0031283Tufted hairs
HP:0031289White papule
HP:0031288Cobblestone-like hyperkeratosis
HP:0031287Seborrheic keratosis
http://purl.obolibrary.org/obo/PR_000050184Ig kappa light chain protein (human)
http://purl.obolibrary.org/obo/PR_000050181Ig kappa light chain protein
http://purl.obolibrary.org/obo/PR_000050185Ig lambda light chain protein (human)
http://purl.obolibrary.org/obo/PR_000050182Ig lambda light chain protein
http://purl.obolibrary.org/obo/PR_000050183immunoglobulin light chain protein (human)
http://purl.obolibrary.org/obo/PR_000050175immunoglobulin light chain protein
HP:0031282Malalignment of the great toenail
HP:0031281Sialadenitis
http://purl.obolibrary.org/obo/PR_000050187IgD heavy chain protein (human)
http://purl.obolibrary.org/obo/PR_000050186IgD heavy chain protein
http://purl.obolibrary.org/obo/PR_000050174immunoglobulin heavy chain protein
HP:0031280Increased LH response to gonadotropin-releasing hormone stimulation test
http://purl.obolibrary.org/obo/UBERON_0002824vestibular ganglion
http://www.informatics.jax.org/marker/MGI:96549Il2ra (mouse)
http://www.informatics.jax.org/marker/MGI:96550Il2rb (mouse)
http://www.informatics.jax.org/marker/MGI:96553Il3ra (mouse)
http://purl.obolibrary.org/obo/PR_P08575-3receptor-type tyrosine-protein phosphatase C isoform CD45RABC (human)
http://purl.obolibrary.org/obo/PR_P08575-8receptor-type tyrosine-protein phosphatase C isoform CD45RA (human)
HP:0006409Progressive leg bowing
HP:0006400Absent knee epiphyses
http://purl.obolibrary.org/obo/GO_0060973cell migration involved in heart development
HP:0006402Distal shortening of limbs
HP:0006408Distal tapering femur
HP:0006407Irregular distal femoral epiphysis
HP:0006406Club-shaped proximal femur
http://purl.obolibrary.org/obo/UBERON_0012193phrenic vein
http://purl.obolibrary.org/obo/UBERON_0012198intercostal space
http://purl.obolibrary.org/obo/UBERON_0012197intercostal vein
http://purl.obolibrary.org/obo/UBERON_0012151skeleton of manual digitopodium
http://purl.obolibrary.org/obo/UBERON_0012152skeleton of pedal digitopodium
http://purl.obolibrary.org/obo/UBERON_0012150skeleton of digitopodium
http://purl.obolibrary.org/obo/CHEBI_67142nucleobase analogue
http://purl.obolibrary.org/obo/UBERON_0000170pair of lungs
HP:0006450Multicentric ossification of proximal femoral epiphyses
HP:0009107Abnormal ossification involving the femoral head and neck
http://purl.obolibrary.org/obo/UBERON_0000173amniotic fluid
HP:0006454Delayed patellar ossification
HP:0006453Lateral displacement of the femoral head
HP:0006459Dorsal subluxation of ulna
HP:0006456Irregular proximal tibial epiphyses
HP:0010591Abnormality of the proximal tibial epiphysis
http://purl.obolibrary.org/obo/CL_0007011enteric neuron
http://purl.obolibrary.org/obo/CL_0000107autonomic neuron
http://purl.obolibrary.org/obo/CL_2000032peripheral nervous system neuron
http://purl.obolibrary.org/obo/CL_0000029neuron neural crest derived
HP:0006462Generalized bone demineralization
HP:0006461Proximal femoral epiphysiolysis
HP:0006460Increased laxity of ankles
HP:0006466Ankle flexion contracture
HP:0006465Periosteal thickening of long tubular bones
HP:0006463Rickets of the lower limbs
HP:0002748Rickets
http://purl.obolibrary.org/obo/CL_0007004premigratory neural crest cell
http://purl.obolibrary.org/obo/UBERON_0012167buccal fat pad
http://purl.obolibrary.org/obo/UBERON_0012168umbilical cord blood
HP:0006467Limited shoulder movement
http://purl.obolibrary.org/obo/UBERON_0012172stomach primordium
http://purl.obolibrary.org/obo/UBERON_0012175acoustico-facial VII-VIII ganglion complex
http://purl.obolibrary.org/obo/UBERON_0000199neck of radius
HP:0006480Premature loss of teeth
HP:0006473Anterior bowing of long bones
HP:0006471Fixed elbow flexion
HP:0006470Thin long bone diaphyses
http://purl.obolibrary.org/obo/NCBITaxon_7955Danio rerio
http://purl.obolibrary.org/obo/UBERON_0036146cardiopharyngeal field
HP:0031433Alexithymia
HP:0031432Persistent repetition of actions
http://purl.obolibrary.org/obo/UBERON_0014770palpebral artery
HP:0031431Persistent repetition of words
HP:0031430Oligoclonal T cell expansion
http://purl.obolibrary.org/obo/UBERON_0002792lumbar spinal cord
http://purl.obolibrary.org/obo/GO_0033363secretory granule organization
http://purl.obolibrary.org/obo/UBERON_0014775prosomere
HP:0006415Cortically dense long tubular bones
HP:0031436Increased pitch variability of speech
HP:0006414Distal tibial bowing
HP:0031435Monotonic speech
http://purl.obolibrary.org/obo/UBERON_0014777spinal neuromere
HP:0006413Broad tibial metaphyses
HP:0031434Abnormal speech prosody
http://purl.obolibrary.org/obo/UBERON_0014776midbrain neuromere
HP:0031439Abnormal angiostatin level
HP:0031438Abnormal sex hormone-binding globulin level
http://purl.obolibrary.org/obo/UBERON_0014780palatine aponeurosis
HP:0031421Small superior frontal cortex
HP:0031420Small yellow foveal lesion with surrounding gray zone
http://purl.obolibrary.org/obo/CHEBI_67195gap junctional intercellular communication inhibitor
http://purl.obolibrary.org/obo/CHEBI_67199AP-1 antagonist
http://purl.obolibrary.org/obo/CHEBI_67198retinoic acid receptor agonist
HP:0006420Asymmetric radial dysplasia
http://purl.obolibrary.org/obo/PR_P17813endoglin (human)
http://purl.obolibrary.org/obo/CHEBI_133580N-hexanoylglycinate
HP:0031426Decreased circulating beta-C-terminal telopeptide level
http://purl.obolibrary.org/obo/UBERON_0012125dermatological-muscosal system
HP:0006426Rudimentary to absent tibiae
HP:0031425Increased circulating beta-C-terminal telopeptide level
http://purl.obolibrary.org/obo/UBERON_0012126fibulare
HP:0031424Abnormal circulating beta-C-terminal telopeptide level
HP:0006424Elongated radius
HP:0031423Small cerebellar cortex
HP:0031422Abnormal morphology of the cerebellar cortex
HP:0006423Peg-like central prominence of distal tibial metaphyses
HP:0031429Decreased circulating osteocalcin level
HP:0006429Broad femoral neck
HP:0031428Increased circulating osteocalcin level
HP:0031427Abnormal circulating osteocalcin level
http://purl.obolibrary.org/obo/UBERON_0012128nose tip
http://purl.obolibrary.org/obo/UBERON_0014791musculature of forelimb stylopod
http://purl.obolibrary.org/obo/UBERON_0014790lingual septum
HP:0031410Abnormal distribution of CD56 bright/dim natural killer cells
http://purl.obolibrary.org/obo/UBERON_0000159anal canal
HP:0006432Trapezoidal distal femoral condyles
http://purl.obolibrary.org/obo/UBERON_0000154posterior region of body
http://purl.obolibrary.org/obo/UBERON_0000153anterior region of body
HP:0031415High serum calcitriol
HP:0006437Disproportionate prominence of the femoral medial condyle
HP:0031414High serum calcifediol
http://purl.obolibrary.org/obo/UBERON_0014796common tendinous ring
HP:0031413Short telomere length
HP:0031412Abnormal telomere morphology
HP:0031411Abnormal chromosome morphology
HP:0006434Hypoplasia of proximal radius
HP:0002984Hypoplasia of the radius
HP:0031419Reduced sex -hormone binding protein level
HP:0031418Increased body mass index
HP:0031417Rhinorrhea
HP:0006439Radioulnar dislocation
HP:0031416Abnormal nasal mucus secretion
HP:0006438Enlargement of the distal femoral epiphysis
http://purl.obolibrary.org/obo/UBERON_0012141manual digitopodium region
http://purl.obolibrary.org/obo/UBERON_0012142pedal digitopodium region
http://purl.obolibrary.org/obo/UBERON_0012140digitopodium region
http://purl.obolibrary.org/obo/UBERON_0000167oral cavity
http://purl.obolibrary.org/obo/UBERON_0000166oral opening
http://purl.obolibrary.org/obo/UBERON_0000160intestine
http://purl.obolibrary.org/obo/UBERON_0000163embryonic cloaca
HP:0006443Patellar aplasia
http://purl.obolibrary.org/obo/UBERON_0000162cloaca
http://purl.obolibrary.org/obo/UBERON_0000165mouth
HP:0006442Hypoplasia of proximal fibula
http://purl.obolibrary.org/obo/UBERON_0000164primitive urogenital sinus
HP:0006441Lateral humeral condyle aplasia
HP:0031403Impaired pathogen-specific CD8 cytoxicity
HP:0031402Reduced antigen-specific T cell proliferation
HP:0006446Dysplastic patella
HP:0031401Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
HP:0031408Increased proportion of CD25+ mast cells
HP:0031407Impaired cytokine signaling
HP:0031406Abnormal cytokine signaling
HP:0031405Poroma
HP:0006449Distal radial epiphyseal osteolysis
HP:0031352Chest tightness
HP:0031351Calcified amorphous tumor of the heart
HP:0031350Cardiac sarcoma
HP:0031356Terminal insomnia
HP:0031355Maintenance insomnia
HP:0031354Sleep onset Insomnia
HP:0100785Insomnia
HP:0031353Otitis media with effusion
HP:0000388Otitis media
http://purl.obolibrary.org/obo/GO_0008301DNA binding, bending
http://purl.obolibrary.org/obo/GO_0003677DNA binding
http://purl.obolibrary.org/obo/GO_0003676nucleic acid binding
HP:0031359Cutaneous sclerotic plaque
HP:0031358Vegetative state
HP:0031357Glomeruloid hemangioma
http://purl.obolibrary.org/obo/UBERON_0000109gastrula stage
HP:0031341Gastric arteriovenous malformation
http://purl.obolibrary.org/obo/UBERON_0000108blastula stage
HP:0031345Colonic arteriovenous malformation
HP:0031344Pelvic arteriovenous malformation
HP:0031343Jejunal arteriovenous malformation
HP:0031342Duodenal arteriovenous malformation
http://purl.obolibrary.org/obo/UBERON_0000102lung vasculature
http://www.informatics.jax.org/marker/MGI:106910Ly76 (mouse)
http://purl.obolibrary.org/obo/CHEBI_18186tyrosine
http://purl.obolibrary.org/obo/UBERON_0000104life cycle
http://www.informatics.jax.org/marker/MGI:106912Adgre1 (mouse)
http://purl.obolibrary.org/obo/UBERON_0000107cleavage stage
http://purl.obolibrary.org/obo/UBERON_0000106zygote stage
http://purl.obolibrary.org/obo/CHEBI_181835-oxo-L-proline
HP:0031349Levotransposition of the great arteries
HP:0031348Dextrotransposition of the great arteries
HP:0031347Uterine arteriovenous malformation
HP:0031346Rectal arteriovenous malformation
HP:0002629Gastrointestinal arteriovenous malformation
HP:0031330Perivascular myocardial immune cell infiltration
HP:0031334Cardiomyocyte inclusion bodies
HP:0031333Myocardial sarcomeric disarray
HP:0031332Cardiomyocyte degeneration
http://purl.obolibrary.org/obo/UBERON_0000112sexually immature stage
http://purl.obolibrary.org/obo/UBERON_0000111organogenesis stage
http://purl.obolibrary.org/obo/UBERON_0000113post-juvenile adult stage
http://purl.obolibrary.org/obo/UBERON_0000118lung bud
http://purl.obolibrary.org/obo/UBERON_0000110neurula stage
HP:0031338Abnormal cardiomyocyte plakoglobin staining
HP:0031337Abnormal cardiomyocyte connexin43 staining
HP:0031336Intranuclear cardiomyocyte mitochondria
HP:0031335Abnormal cardiomyocyte mitochondrial morphology
HP:0031339Abnormal cadiomyocyte dystrophin staining
HP:0031323Myocardial eosinophilic infiltration
HP:0031322Myocardial lymphocytic infiltration
HP:0031320Cardiomyocyte mitochondrial proliferation
HP:0031331Abnormal cardiomyocyte morphology
http://purl.obolibrary.org/obo/GO_0035929steroid hormone secretion
http://purl.obolibrary.org/obo/GO_0060986endocrine hormone secretion
http://purl.obolibrary.org/obo/UBERON_0002787decussation of trochlear nerve
http://purl.obolibrary.org/obo/UBERON_0000127facial nucleus
http://purl.obolibrary.org/obo/UBERON_0000128olivary body
HP:0031327Transthyretin cardiac amyloidosis
HP:0031326Monoclonal light chain cardiac amyloidosis
http://purl.obolibrary.org/obo/UBERON_0014763fused metatarsal bones 2-4
http://purl.obolibrary.org/obo/UBERON_0014762fused metapodial bones 2-4
HP:0031325Myocardial granulomatous infiltrates
http://purl.obolibrary.org/obo/UBERON_0014766right crus of diaphragm
HP:0031324Myocardial multinucleated giant cells
HP:0031321Myocardial immune cell infiltration
http://purl.obolibrary.org/obo/UBERON_0014768superior palpebral vein
http://purl.obolibrary.org/obo/UBERON_0014767left crus of diaphragm
http://purl.obolibrary.org/obo/UBERON_0014765crus of diaphragm
HP:0031329Interstitial cardiac fibrosis
HP:0031328Perivascular cardiac fibrosis
HP:0031394Abnormal CD4:CD8 ratio
HP:0031399Abnormal proportion of double-negative alpha-beta regulatory T cell
HP:0006381Rudimentary fibula
HP:0031391Elevated MHC II surface expression
HP:0006380Knee flexion contracture
HP:0031390Reduced MHC II surface expression
http://purl.obolibrary.org/obo/GO_0035936testosterone secretion
HP:0006371Broad long bone diaphyses
HP:0006378Osteolysis of patellae
HP:0006375Dumbbell-shaped femur
HP:0006379Proximal tibial hypoplasia
http://purl.obolibrary.org/obo/PR_P40240CD9 antigen (mouse)
http://purl.obolibrary.org/obo/UBERON_0002726cervical spinal cord
HP:0031385Megakaryocyte nucleus hypolobulation
HP:0031384Reduced T cell CD40 expression
HP:0031382Decreased lymphocyte proliferation in response to anti-CD3
HP:0031389Abnormal MHC II surface expression
HP:0031388Megakaryocyte nucleus hyperlobulation
HP:0031387Increased multinucleated megakaryocyte count
HP:0031386Increased micromegakaryocyte count
http://purl.obolibrary.org/obo/CARO_0001010organism or virus or viroid
http://purl.obolibrary.org/obo/UBERON_0002722trochlear nucleus
HP:0031381Decreased lymphocyte proliferation in response to mitogen
HP:0006391Overtubulated long bones
HP:0031380Abnormal B cell proliferation
HP:0006390Anterior tibial bowing
HP:0002982Tibial bowing
http://purl.obolibrary.org/obo/CHEBI_133610N-isobutyrylglycinate
http://purl.obolibrary.org/obo/UBERON_0014706primitive renal collecting duct system
http://purl.obolibrary.org/obo/UBERON_0007501arborizing epithelial duct system
http://purl.obolibrary.org/obo/UBERON_0014705median lingual swelling epithelium
HP:0006384Club-shaped distal femur
HP:0006387Wide distal femoral metaphysis
HP:0006417Broad femoral metaphyses
HP:0006386Hypoplastic distal radial epiphyses
http://purl.obolibrary.org/obo/UBERON_0014702frontonasal process epithelium
http://purl.obolibrary.org/obo/UBERON_0014704pleuroperitoneal canal lumen
HP:0031374Ankle weakness
HP:0031373Stiff tongue
HP:0031372Cold paresis
HP:0031371Rectal perforation
http://purl.obolibrary.org/obo/CHEBI_1336081-methylhistidine zwitterion
http://purl.obolibrary.org/obo/CHEBI_1336093-methylhistidine zwitterion
HP:0031375Refractory
HP:0031370Small intestinal perforation
http://purl.obolibrary.org/obo/UBERON_0014717mucous acinus
HP:0006394Limited pronation/supination of forearm
http://purl.obolibrary.org/obo/GO_0070288ferritin complex
HP:0006398Flat distal femoral epiphysis
HP:0010590Abnormality of the distal femoral epiphysis
HP:0006397Lateral displacement of patellae
HP:0031363Palpable purpura
HP:0031362Sex-limited autosomal recessive inheritance
HP:0000007Autosomal recessive inheritance
HP:0031361Zebra bodies
HP:0031340Abnormal lysosomal morphology
HP:0031360Yellow skin plaque
HP:0031366Palate neoplasm
HP:0031364Ecchymosis
HP:0031365Macular purpura
HP:0000979Purpura
http://purl.obolibrary.org/obo/UBERON_0002742lamina of septum pellucidum
http://purl.obolibrary.org/obo/CHEBI_43176hydroxy group
http://purl.obolibrary.org/obo/UBERON_0002743basal forebrain
http://purl.obolibrary.org/obo/GO_0070293renal absorption
http://purl.obolibrary.org/obo/GO_0003014renal system process
http://purl.obolibrary.org/obo/UBERON_0014720interlobar duct
HP:0031369Colon perforation
HP:0031368Intestinal perforation
http://purl.obolibrary.org/obo/CHEBI_4439dermatan
http://purl.obolibrary.org/obo/CHEBI_181014-hydroxyphenylacetic acid
http://purl.obolibrary.org/obo/CHEBI_33700proteinogenic amino-acid residue
http://purl.obolibrary.org/obo/UBERON_0002707corticospinal tract
http://purl.obolibrary.org/obo/CHEBI_18139trimethylamine
http://purl.obolibrary.org/obo/CHEBI_25274methylamines
http://purl.obolibrary.org/obo/CHEBI_32876tertiary amine
http://purl.obolibrary.org/obo/CHEBI_21766N-methylglycines
http://purl.obolibrary.org/obo/CHEBI_66933N-alkylglycine
http://purl.obolibrary.org/obo/CHEBI_21760N-methyl-amino acid
http://purl.obolibrary.org/obo/CHEBI_18140hydrogen halide
http://purl.obolibrary.org/obo/CHEBI_33405hydracid
http://www.informatics.jax.org/marker/MGI:96417Ids (mouse)
http://purl.obolibrary.org/obo/CHEBI_57726D-proline zwitterion
http://purl.obolibrary.org/obo/CHEBI_59871D-alpha-amino acid zwitterion
http://purl.obolibrary.org/obo/CHEBI_70709progesterone receptor agonist
HP:0006509Diverticulosis of trachea
HP:0006508Abnormality of tibial epiphyses
http://purl.obolibrary.org/obo/CHEBI_5330153,3',5-triiodo-L-thyronine zwitterion
HP:0006519Alveolar cell carcinoma
HP:0006510Chronic pulmonary obstruction
http://www.informatics.jax.org/marker/MGI:96213Hpd (mouse)
http://purl.obolibrary.org/obo/GO_0060841venous blood vessel development
http://purl.obolibrary.org/obo/GO_0001568blood vessel development
HP:0006514Intraalveolar nodular calcifications
HP:0006511Laryngeal stridor
HP:0006518Pulmonary venous occlusion
HP:0006517Alveolar proteinosis
HP:0006516Hypersensitivity pneumonitis
HP:0006515Interstitial pneumonitis
HP:0006521Pulmonary lymphangiectasia
HP:0006520Progressive pulmonary function impairment
HP:0006524Tracheobronchial leiomyomatosis
HP:0006522Repeated pneumothoraces
HP:0006529Abnormal pulmonary lymphatics
HP:0006528Chronic lung disease
HP:0006527Lymphoid interstitial pneumonia
http://purl.obolibrary.org/obo/UBERON_0012073tooth of palatine bone
http://purl.obolibrary.org/obo/UBERON_0012074bony part of hard palate
http://purl.obolibrary.org/obo/UBERON_0012072palatal part of dermatocranium
http://purl.obolibrary.org/obo/UBERON_0012076tibiotalar joint
http://purl.obolibrary.org/obo/PR_Q3V009transmembrane emp24 domain-containing protein 1 (mouse)
http://purl.obolibrary.org/obo/UBERON_0000092post-embryonic stage
http://purl.obolibrary.org/obo/UBERON_0000095cardiac neural crest
http://purl.obolibrary.org/obo/UBERON_0000091bilaminar disc
http://purl.obolibrary.org/obo/UBERON_0012082bronchial lumen
http://purl.obolibrary.org/obo/CHEBI_79026molybdenum cofactor(3-)
http://purl.obolibrary.org/obo/UBERON_0012080patella cartilage element
http://purl.obolibrary.org/obo/UBERON_0012081patella pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0036073respiratory primordium mesenchyme
http://purl.obolibrary.org/obo/UBERON_0036074vein of vestibular aqueduct
http://purl.obolibrary.org/obo/UBERON_0036072respiratory primordium epithelium
http://purl.obolibrary.org/obo/PR_000001483low affinity immunoglobulin gamma Fc region receptor III
HP:0031510Linear earlobe crease
http://purl.obolibrary.org/obo/UBERON_0014693inferior alveolar artery
http://purl.obolibrary.org/obo/UBERON_0009654alveolar artery
http://purl.obolibrary.org/obo/UBERON_0014695deep auricular artery
http://purl.obolibrary.org/obo/UBERON_0009655auricular artery
http://purl.obolibrary.org/obo/UBERON_0000059large intestine
HP:0006572Subacute progressive viral hepatitis
HP:0006571Reduced number of intrahepatic bile ducts
HP:0031519Cauliflower deformity of dermal collagen fibrils
http://purl.obolibrary.org/obo/UBERON_0000053macula lutea
HP:0006576Hepatic vascular malformations
HP:0006575Intrahepatic cholestasis with episodic jaundice
HP:0006574Hepatic arteriovenous malformation
http://purl.obolibrary.org/obo/GO_0070265necrotic cell death
http://purl.obolibrary.org/obo/UBERON_0000054macula
HP:0006573Acute hepatic steatosis
HP:0031514Increased proportion of exhausted T cells
HP:0031513Luse bodies
HP:0006579Prolonged neonatal jaundice
HP:0031512Abnormal cutaneous collagen fibril morphology
HP:0031511Diagonal earlobe crease
http://purl.obolibrary.org/obo/UBERON_0014699extraembryonic venous system
http://purl.obolibrary.org/obo/UBERON_0014701extraembryonic vascular system
HP:0006577Macronodular cirrhosis
HP:0031518Absent posterior alpha rhythm
HP:0031517Verruciform xanthoma
HP:0031516Oocyte arrest at metaphase I
HP:0031515Abnormal meiosis
http://purl.obolibrary.org/obo/UBERON_0000068embryo stage
HP:0006590Premature sternal synostosis
HP:0006583Fatal liver failure in infancy
HP:0006582Reye syndrome-like episodes
HP:0031509Dry nipple
HP:0006581Depletion of mitochondrial DNA in liver
HP:0006580Portal fibrosis
HP:0006587Straight clavicles
http://purl.obolibrary.org/obo/UBERON_0000066fully formed stage
HP:0006585Congenital pseudoarthrosis of the clavicle
http://purl.obolibrary.org/obo/UBERON_0000065respiratory tract
HP:0006584Small abnormally formed scapulae
HP:0031503Night gasping
HP:0031502Trophoblastic tumor
HP:0031501Pelvic mass
HP:0006589Flaring of lower rib cage
HP:0000904Flaring of rib cage
HP:0031500Abdominal mass
HP:0031507Decreased circulating thyroxine level
HP:0031506Increased circulating thyroxine level
HP:0031505Abnormal circulating thyroxine level
HP:0031504Foamy urine
http://purl.obolibrary.org/obo/GO_0035878nail development
http://purl.obolibrary.org/obo/UBERON_0012054myocoele
http://purl.obolibrary.org/obo/UBERON_0000079male reproductive system
http://purl.obolibrary.org/obo/UBERON_0000990reproductive system
http://purl.obolibrary.org/obo/UBERON_0000078mixed ectoderm/mesoderm/endoderm-derived structure
http://purl.obolibrary.org/obo/UBERON_0000071death stage
HP:0006593Anomalous rib insertion to vertebrae
HP:0006591Absent glenoid fossa
HP:0006598Irregular ossification at anterior rib ends
HP:0006597Diaphragmatic paralysis
HP:0009113Diaphragmatic weakness
HP:0006596Restricted chest movement
http://purl.obolibrary.org/obo/UBERON_0000076external ectoderm
HP:0006595Scapulohumeral synostosis
http://purl.obolibrary.org/obo/PR_000025408T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed glycosylated form
http://purl.obolibrary.org/obo/PR_000025409T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed glycosylated form
http://purl.obolibrary.org/obo/PR_000025407T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form
HP:0006599Medial widening of clavicles
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3765FLT3 (human)
http://purl.obolibrary.org/obo/UBERON_0000081metanephros
http://purl.obolibrary.org/obo/UBERON_0000084ureteric bud
http://purl.obolibrary.org/obo/UBERON_0000083mesonephric tubule
http://purl.obolibrary.org/obo/UBERON_0005103mesonephric epithelium
http://purl.obolibrary.org/obo/UBERON_0000086zona pellucida
http://purl.obolibrary.org/obo/UBERON_0000085morula
http://purl.obolibrary.org/obo/UBERON_0000088trophoblast
http://purl.obolibrary.org/obo/UBERON_0000087inner cell mass
http://purl.obolibrary.org/obo/UBERON_0000080mesonephros
HP:0031554Reduced granulocyte CD55 level
http://purl.obolibrary.org/obo/UBERON_0000013sympathetic nervous system
http://purl.obolibrary.org/obo/UBERON_0000012somatic nervous system
http://purl.obolibrary.org/obo/UBERON_0000017exocrine pancreas
http://purl.obolibrary.org/obo/UBERON_0000016endocrine pancreas
http://purl.obolibrary.org/obo/UBERON_0000019camera-type eye
HP:0006532Recurrent pneumonia
HP:0002783Recurrent lower respiratory tract infections
http://purl.obolibrary.org/obo/UBERON_0024045white matter of the cerebellar cortex
HP:0006531Pleural lymphangiectasia
http://purl.obolibrary.org/obo/UBERON_0000011parasympathetic nervous system
http://purl.obolibrary.org/obo/UBERON_0000010peripheral nervous system
http://purl.obolibrary.org/obo/UBERON_0002673vestibular nuclear complex
HP:0031558Reduced fibroblast CD59 level
HP:0031557Reduced fibroblast CD55 level
HP:0006535Recurrent intrapulmonary hemorrhage
HP:0031556Reduced granulocyte CD16 level
HP:0031555Reduced granulocyte CD59 level
HP:0006533Bronchodysplasia
http://purl.obolibrary.org/obo/GO_0070227lymphocyte apoptotic process
HP:0006539Bronchial cartilage hypoplasia
HP:0006538Recurrent bronchopulmonary infections
HP:0031559Reduced fibroblast CD16 level
HP:0031552Reduced fibroblast surface marker level
http://purl.obolibrary.org/obo/GO_0070229negative regulation of lymphocyte apoptotic process
http://purl.obolibrary.org/obo/UBERON_0036013intergluteal cleft
http://purl.obolibrary.org/obo/UBERON_0036014gluteal sulcus
HP:0031542Myelin-like whorls in vacuolated fibers
HP:0031541Linear C3 deposits along the epidermal basement membrane zone
HP:0031540Linear IgG deposits along the epidermal basement membrane zone
HP:0006543Cardiorespiratory arrest
http://purl.obolibrary.org/obo/GO_0070230positive regulation of lymphocyte apoptotic process
http://purl.obolibrary.org/obo/GO_0070228regulation of lymphocyte apoptotic process
http://purl.obolibrary.org/obo/UBERON_0002682abducens nucleus
HP:0031545Abnormally low T cell receptor excision circle level
HP:0031544Elevated propionylcarnitine level
HP:0006544Extrapulmonary sequestrum
http://purl.obolibrary.org/obo/UBERON_0014668distal interphalangeal joint of manual digit 2
http://purl.obolibrary.org/obo/UBERON_0007729interphalangeal joint of manual digit 2
HP:0031549Lymphocytoma cutis
HP:0006549Unilateral primary pulmonary dysgenesis
HP:0031548Follicular infundibulum tumor
HP:0006548Pulmonary arteriovenous malformation
http://purl.obolibrary.org/obo/UBERON_0014670distal interphalangeal joint of manual digit 4
http://purl.obolibrary.org/obo/UBERON_0007731interphalangeal joint of manual digit 4
HP:0031532Focal sub-RPE deposits
http://purl.obolibrary.org/obo/UBERON_0014672distal interphalangeal joint of pedal digit 2
http://purl.obolibrary.org/obo/UBERON_0007725interphalangeal joint of pedal digit 2
http://purl.obolibrary.org/obo/UBERON_0014671distal interphalangeal joint of manural digit 5
HP:0031530Multifocal subretinal deposits
http://purl.obolibrary.org/obo/UBERON_0014674distal interphalangeal joint of pedal digit 4
http://purl.obolibrary.org/obo/UBERON_0007727interphalangeal joint of pedal digit 4
HP:0006552Fibrocystic lung disease
HP:0031536Separate origin of the left anterior descending and left circumflex artery
HP:0006558Decreased mitochondrial complex III activity in liver tissue
HP:0031535Increased theta frequency activity in EEG
http://purl.obolibrary.org/obo/UBERON_0014675distal interphalangeal joint of pedal digit 5
http://purl.obolibrary.org/obo/UBERON_0007728interphalangeal joint of pedal digit 5
HP:0006557Polycystic liver disease
HP:0031534Passive dorsiflexion of the 5th finger more than 90 degrees
HP:0031533Multifocal sub-RPE deposits
HP:0031531Sub-RPE deposits
http://purl.obolibrary.org/obo/UBERON_0014677distal interphalangeal joint of digit 2
HP:0006555Diffuse hepatic steatosis
HP:0031539Linear IgA deposits along the epidermal basement membrane zone
http://purl.obolibrary.org/obo/UBERON_0014679distal interphalangeal joint of digit 4
HP:0031537Anomalous origin of the left circumflex artery from the right coronary artery
HP:0006559Hepatic calcification
http://purl.obolibrary.org/obo/GO_0045260plasma membrane proton-transporting ATP synthase complex
http://purl.obolibrary.org/obo/UBERON_0014680distal interphalangeal joint of digit 5
HP:0031521Vaginal clear cell adenocarcinoma
HP:0031520Groin pain
http://purl.obolibrary.org/obo/UBERON_0000047simple eye
HP:0006560Biliary hyperplasia
HP:0006565Increased hepatocellular lipid droplets
HP:0006564Fluctuating hepatomegaly
HP:0006563Malformation of the hepatic ductal plate
HP:0031525Keratoacanthoma
http://purl.obolibrary.org/obo/UBERON_0014687temporal sulcus
HP:0031524Ampulla of Vater carcinoma
http://purl.obolibrary.org/obo/UBERON_0014686angular vein
HP:0006568Increased hepatic glycogen content
http://purl.obolibrary.org/obo/GO_0045259proton-transporting ATP synthase complex
HP:0031523Salivary gland oncocytoma
HP:0100684Salivary gland neoplasm
HP:0031522Cervical clear cell adenocarcinoma
HP:0100650Vaginal neoplasm
HP:0006566Neonatal cholestatic liver disease
HP:0002611Cholestatic liver disease
HP:0031529Focal subretinal deposits
HP:0031528Subretinal deposits
HP:0031527Intraretinal fluid
HP:0031526Subretinal fluid
HP:0031473Hostility
HP:0031472Risk taking
HP:0000734Disinhibition
HP:0031474Pulmonary chondroma
http://purl.obolibrary.org/obo/UBERON_0014610thoracic spinal cord ventral horn
HP:0031479Dilatation of the mitral annulus
HP:0031478Abnormal mitral valve annulus morphology
http://purl.obolibrary.org/obo/CHEBI_31011valerate
http://purl.obolibrary.org/obo/UBERON_0014614cervical spinal cord white matter
http://purl.obolibrary.org/obo/UBERON_0014613cervical spinal cord gray matter
HP:0031462Musculotendinous retraction
HP:0031461Intramuscular Myxoma
HP:0031460Benign muscle neoplasm
HP:0031465Abnormal vasa vasorum morphology
HP:0031464Genital blistering
HP:0031463Esophageal squamous papilloma
http://purl.obolibrary.org/obo/CHEBI_18067phylloquinone
http://purl.obolibrary.org/obo/UBERON_0014621cervical spinal cord ventral horn
HP:0031469Low self esteem
HP:0031468Separation insecurity
HP:0031467Negative affectivity
http://purl.obolibrary.org/obo/CHEBI_57630gamma-amino-beta-hydroxybutyric acid zwitterion
HP:0031451Lower extremity subcutanous fat hypertrophy
HP:0031450Polycyclic
HP:0031455Presacral ganglioneuroma
HP:0031454Apocrine hidrocystoma
HP:0031453Oral lichenoid lesion
HP:0031452Lichenoid skin lesion
http://purl.obolibrary.org/obo/GO_0008203cholesterol metabolic process
http://purl.obolibrary.org/obo/GO_1902652secondary alcohol metabolic process
http://purl.obolibrary.org/obo/UBERON_0014639frontal sulcus
HP:0031458Adenoiditis
HP:0031456Ectopic pregnancy
http://purl.obolibrary.org/obo/UBERON_0014636thoracic spinal cord gray matter
http://purl.obolibrary.org/obo/CHEBI_33693oxygen hydride
http://purl.obolibrary.org/obo/UBERON_0014637thoracic spinal cord white matter
HP:0031444Dilatation of the tricuspid annulus
HP:0031443Abnormal tricuspid valve leaflet morphology
HP:0031441Abnormal tricuspid valve annulus morphology
http://purl.obolibrary.org/obo/UBERON_0002663septal nuclear complex
http://purl.obolibrary.org/obo/UBERON_0000002uterine cervix
http://purl.obolibrary.org/obo/UBERON_0000004nose
http://purl.obolibrary.org/obo/UBERON_0000006islet of Langerhans
http://purl.obolibrary.org/obo/UBERON_0000007pituitary gland
HP:0031448Herpetiform vesicles
HP:0200037Skin vesicle
HP:0031447Penile freckling
HP:0031446Erosion of oral mucosa
HP:0031445Oral mucosa nodule
http://purl.obolibrary.org/obo/CHEBI_57652chondroitin D-glucuronate anion
http://purl.obolibrary.org/obo/UBERON_0014649white matter of medulla oblongata
http://purl.obolibrary.org/obo/UBERON_0019262white matter of myelencephalon
HP:0031449Perineal hemangioma
http://purl.obolibrary.org/obo/PATO_0001025pressure
http://purl.obolibrary.org/obo/CHEBI_133744homovanillate
http://purl.obolibrary.org/obo/CHEBI_18095trans-4-hydroxy-L-proline
http://purl.obolibrary.org/obo/PR_000025402T cell receptor co-receptor CD8
http://purl.obolibrary.org/obo/PR_000025406T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form
http://purl.obolibrary.org/obo/CHEBI_45696hydrogensulfate
http://purl.obolibrary.org/obo/UBERON_0002600limbic lobe
http://purl.obolibrary.org/obo/PATO_0001020damage
HP:0031494Ovarian mucinous tumor
HP:0031499Appendiceal mucinous neoplasm
HP:0031498Mucinous gastric carcinoma
HP:0031497Mucinous colorectal carcinoma
HP:0031496Mucinous cystic neoplasm of the pancreas
HP:0031495Mucinous neoplasm
HP:0031493Glandular cell neoplasm
http://purl.obolibrary.org/obo/UBERON_0002610cochlear nuclear complex
HP:0031491Continuous spike and waves during slow sleep
HP:0031490Hemangioma of the lip
http://purl.obolibrary.org/obo/PATO_0001043susceptibility toward
http://purl.obolibrary.org/obo/PATO_0001046resistance to
http://purl.obolibrary.org/obo/GO_0070166enamel mineralization
HP:0031484Cold-induced hemolysis
HP:0031483Reduced contraction of the left ventricular apex
HP:0031482Abnormal regional left ventricular contraction
HP:0031488Arteriovenous malformation of the lip
HP:0031487Capillary malformation of the lip
HP:0031485Subperiosteal bone formation
http://purl.obolibrary.org/obo/CHEBI_18089N-benzoylglycine
http://purl.obolibrary.org/obo/GO_0070174negative regulation of enamel mineralization
http://purl.obolibrary.org/obo/GO_0042489negative regulation of odontogenesis of dentin-containing tooth
http://purl.obolibrary.org/obo/GO_0070171negative regulation of tooth mineralization
http://purl.obolibrary.org/obo/GO_0042483negative regulation of odontogenesis
http://purl.obolibrary.org/obo/GO_0070168negative regulation of biomineral tissue development
http://purl.obolibrary.org/obo/GO_0070175positive regulation of enamel mineralization
http://purl.obolibrary.org/obo/GO_0042488positive regulation of odontogenesis of dentin-containing tooth
http://purl.obolibrary.org/obo/GO_0070173regulation of enamel mineralization
http://purl.obolibrary.org/obo/GO_0042487regulation of odontogenesis of dentin-containing tooth
http://purl.obolibrary.org/obo/GO_0070172positive regulation of tooth mineralization
http://purl.obolibrary.org/obo/GO_0042482positive regulation of odontogenesis
http://purl.obolibrary.org/obo/GO_0070169positive regulation of biomineral tissue development
http://purl.obolibrary.org/obo/GO_0070170regulation of tooth mineralization
http://purl.obolibrary.org/obo/GO_0042481regulation of odontogenesis
http://purl.obolibrary.org/obo/GO_0070167regulation of biomineral tissue development
HP:0031489Venous malformation of the lip
HP:0031486Vascular malformation of the lip
http://purl.obolibrary.org/obo/CHEBI_21622N-acetylneuraminic acids
http://www.informatics.jax.org/marker/MGI:98973Xdh (mouse)
http://purl.obolibrary.org/obo/CHEBI_576065-oxoprolinate
http://purl.obolibrary.org/obo/CHEBI_456304-oxopentanoic acid
http://www.informatics.jax.org/marker/MGI:98941Vwf (mouse)
HP:0006619Anterior rib punctate calcifications
HP:0006611Decreased number of sternal ossification centers
HP:0006610Wide intermamillary distance
HP:0006615Absent in utero rib ossification
HP:0006623Costochondral joint sclerosis
http://purl.obolibrary.org/obo/GO_0045599negative regulation of fat cell differentiation
HP:0006628Absent sternal ossification
HP:0006625Multifocal breast carcinoma
HP:0006631Hypoplastic distal segments of scapulae
HP:0000882Hypoplastic scapulae
HP:0006634Osteosclerosis of ribs
HP:0006633Glenoid fossa hypoplasia
HP:0006638Midclavicular aplasia
http://purl.obolibrary.org/obo/GO_0070527platelet aggregation
HP:0006637Sternal punctate calcifications
http://purl.obolibrary.org/obo/GO_0045581negative regulation of T cell differentiation
http://purl.obolibrary.org/obo/GO_0045582positive regulation of T cell differentiation
http://purl.obolibrary.org/obo/GO_0045580regulation of T cell differentiation
http://purl.obolibrary.org/obo/CHEBI_50584alkyl alcohol
HP:0006642Large sternal ossification centers
HP:0006641Prominent floating ribs
HP:0006640Multiple rib fractures
HP:0006646Costal cartilage calcification
HP:0006645Thin clavicles
http://purl.obolibrary.org/obo/GO_0045578negative regulation of B cell differentiation
http://purl.obolibrary.org/obo/GO_0050869negative regulation of B cell activation
HP:0006644Thoracic dysplasia
HP:0006643Fused sternal ossification centers
http://purl.obolibrary.org/obo/GO_0045579positive regulation of B cell differentiation
http://purl.obolibrary.org/obo/GO_0045577regulation of B cell differentiation
http://purl.obolibrary.org/obo/GO_0050871positive regulation of B cell activation
http://purl.obolibrary.org/obo/GO_0050864regulation of B cell activation
HP:0006649Costochondral pain
HP:0006647Congenital microthorax
http://purl.obolibrary.org/obo/GO_0070507regulation of microtubule cytoskeleton organization
http://purl.obolibrary.org/obo/UBERON_4200230surface of bone
HP:0006608Midclavicular hypoplasia
HP:0000894Short clavicles
HP:0006607Precocious costochondral ossification
HP:0012306Abnormal rib ossification
HP:0006600Progressive calcification of costochondral cartilage
HP:0006606Irregular chondrocostal junctions
HP:0000919Abnormality of the costochondral junction
HP:0006603Flared, irregular rib ends
HP:0000887Cupped ribs
HP:0031631Subpleural honeycombing
HP:0006693Myocardial steatosis
HP:0004033Curved olecranon
HP:0006692Short chordae tendineae of the tricuspid valve
HP:0031442Abnormal tricuspid chordae tendinae morphology
HP:0004034Irregular olecranon
HP:0004032Abnormality of the olecranon
HP:0010601Abnormality of the proximal ulnar epiphysis
HP:0006691Pulmonic valve myxoma
HP:0006690Myocardial calcification
HP:0006696Polymorphic and polytopic ventricular extrasystoles
HP:0004030Patchy sclerosis of radial diaphysis
HP:0004031Broad radial diaphysis
HP:0006694Early progressive calcific cardiac valvular disease
HP:0031635Anomalous origin of the left common carotid artery from the brachiocephalic artery
HP:0031634Anomalous origin of the left common carotid artery from the main pulmonary artery
HP:0031633Isolation of the left subclavian artery
HP:0006699Premature atrial contractions
HP:0031632Anomalous origin of the right subclavian artery from the descending aorta
HP:0031251Abnormal subclavian artery morphology
HP:0031639Absent left main coronary artery
HP:0004036Long styloid process of ulna
HP:0031638Anomalous origin of the left anterior descending artery from the pulmonary artery
HP:0031637Right coronary artery ostial atresia
http://purl.obolibrary.org/obo/ENVO_01000254environmental system
http://purl.obolibrary.org/obo/RO_0002577system
HP:0031636Anomalous origin of the right common carotid artery from the aorta
HP:0031620Anterior chamber flare grade 3+
HP:0004043Lytic defects of ulnar metaphysis
HP:0004044Pointed ulnar metaphysis
HP:0004045Sloping ulnar metaphysis
HP:0031629Impaired tandem gait
HP:0004046Spurred ulnar metaphysis
HP:0004040Corner fragments of ulnar metaphysis
HP:0004041Cupped ulnar metaphysis
HP:0004042Ulnar metaphyseal irregularity
HP:0031624Moderate myopia
HP:0031623Brow ptosis
HP:0031622Brown anomaly
HP:0031621Anterior chamber flare grade 4+
HP:0031628Aborted sudden cardiac death
HP:0004047Wide ulnar metaphysis
HP:0004039Abnormality of ulnar metaphysis
HP:0031627Globus pallidus calcification
HP:0004048Narrow joint spaces of wrist
HP:0004049Decreased carpal angles of wrist
HP:0031626Coronary ostial atresia
HP:0031625Pseudoaneurysm
HP:0004060Trident hand
http://purl.obolibrary.org/obo/CHEBI_25555nitrogen atom
HP:0031619Anterior chamber flare grade 2+
HP:0031618Anterior chamber flare grade 1+
HP:0004057Mitten deformity
HP:0004050Absent hand
HP:0004053Dysharmonic maturation of the hand bones
HP:0031613Inferior chorioretinal coloboma
HP:0000567Chorioretinal coloboma
HP:0031611Sub-inner limiting membrane hemorrhage
HP:0031610Recurrent shoulder dislocation
HP:0004058Hand monodactyly
HP:0031616Anterior chamber flare
HP:0004059Radial club hand
HP:0006433Radial dysplasia
HP:0009486Radial deviation of the hand
HP:0031615Hypopyon
HP:0031614Inferior retinal coloboma
HP:0031609Geographic atrophy
HP:0031607Pelvic organ prolapse
HP:0031601P pulmonale
HP:0031600P wave inversion
HP:0031604Agenesis of the carotid canal
HP:0031603Impaired nasal mucociliary clearance
HP:0031602Abnormal mucociliary clearance
HP:0031671Typical atrial flutter
HP:0031670Continuous heart murmur
HP:0031675Fascicular left ventricular tachycardia
HP:0031674Antidromic atrioventricular reentrant tachycardia
http://purl.obolibrary.org/obo/UBERON_0014531white matter lamina of diencephalon
HP:0031673Orthodromic atrioventricular reentrant tachycardia
HP:0031672Reverse typical atrial flutter
http://purl.obolibrary.org/obo/CHEBI_50505sweetening agent
http://purl.obolibrary.org/obo/CHEBI_35617flavouring agent
http://purl.obolibrary.org/obo/CHEBI_50503laxative
HP:0006650Thickening of the lateral border of the scapula
HP:0031679Type I atherosclerotic lesion
HP:0006657Hypoplasia of first ribs
http://purl.obolibrary.org/obo/UBERON_0014532white matter lamina of cerebral hemisphere
HP:0031677Polymorphic ventricular tachycardia
HP:0006655Rib segmentation abnormalities
HP:0031676Monomorphic ventricular tachycardia
HP:0006659Internally rotated shoulders
HP:0031660Loud first heart sound
http://purl.obolibrary.org/obo/UBERON_0014540white matter lamina of cerebellum
http://purl.obolibrary.org/obo/UBERON_0014530white matter lamina of neuraxis
HP:0031663Paradoxical splitting of the second heart sound
http://purl.obolibrary.org/obo/UBERON_0014542cervical division of cord spinal central canal
HP:0031662Fixed splitting of the second heart sound
http://purl.obolibrary.org/obo/UBERON_0014541thoracic division of spinal cord central canal
http://purl.obolibrary.org/obo/CHEBI_86508alpha-aminobutyrate
http://purl.obolibrary.org/obo/PR_Q62351transferrin receptor protein 1 (mouse)
http://purl.obolibrary.org/obo/UBERON_0002567basal part of pons
HP:0006660Aplastic clavicle
HP:0004000Cone-shaped distal radial epiphysis
HP:0004001Medially deficient radial epiphyses
http://purl.obolibrary.org/obo/UBERON_0002561lumen of central nervous system
HP:0004007Sclerotic radial epiphyses
HP:0006668Twelfth rib hypoplasia
HP:0000773Short ribs
http://purl.obolibrary.org/obo/UBERON_0014543lumbar division of spinal cord central canal
HP:0031667Holosystolic murmur
HP:0004009Medially sloping radial epiphyses
HP:0004008Sloping radial epiphyses
HP:0031666Late systolic murmur
HP:0031665Midsystolic murmur
HP:0031664Systolic heart murmur
HP:0006665Coat hanger sign of ribs
HP:0004003Medially flattened radial epiphyses
http://purl.obolibrary.org/obo/UBERON_0014547sacral division of spinal cord central canal
http://purl.obolibrary.org/obo/UBERON_0014538subdivision of spinal cord central canal
HP:0004004Irregular radial epiphyses
HP:0004005Large radial epiphyses
http://purl.obolibrary.org/obo/CHEBI_62501folate(2-)
HP:0031669Middiastolic murmur
HP:0031668Diastolic heart murmur
HP:0004006Round radial epiphyses
HP:0004010Small radial epiphyses
HP:0006671Paroxysmal atrial tachycardia
HP:0006670Impaired myocardial contractility
HP:0004013Medially fused radial epiphyseal plates
HP:0004012Premature fusion of the radial epiphyseal plates
HP:0004018Flared radial metaphysis
HP:0006679Granulomatous coronary arteritis
HP:0031656Systolic anterior motion of the mitral valve
HP:0004019Radial metaphyseal irregularity
HP:0031655Quadricuspid aortic valve
HP:0006677Prolonged QRS complex
HP:0004014Broad radial epiphyseal plate
HP:0031659Fourth heart sound
HP:0004016Cupped radial metaphyses
HP:0031658Third heart sound
HP:0004017Exostoses of the radial metaphysis
http://purl.obolibrary.org/obo/UBERON_0002588decussation of superior cerebellar peduncle
http://purl.obolibrary.org/obo/UBERON_0007418neural decussation
http://purl.obolibrary.org/obo/UBERON_0002589lateral corticospinal tract
HP:0004021Lytic defects of radial metaphysis
HP:0006682Ventricular extrasystoles
HP:0004022Sclerotic radial metaphysis with longitudinal striations
HP:0006681Absent atrioventricular node
HP:0004024Medially sloping radial metaphysis
HP:0004023Sloping radial metaphysis
HP:0006685Endocardial fibrosis
HP:0006684Ventricular preexcitation with multiple accessory pathways
HP:0004020Irregular ossification of the radial metaphysis
HP:0006683Abnormal ventricular filling
HP:0031646Fusiform aortic arch aneurysm
HP:0004029Lytic defects of radial diaphysis
HP:0031645Saccular abdominal aortic aneurysm
HP:0006689Bacterial endocarditis
HP:0031644Fusiform abdominal aortic aneurysm
HP:0006688Paroxysmal tachycardia
HP:0031643Fusiform ascending tubular aorta aneurysm
HP:0006687Aortic tortuosity
HP:0004025Spurred radial metaphysis
HP:0031649Aortic rupture
HP:0004026Broad radial metaphysis
HP:0004015Abnormality of radial metaphyses
HP:0031648Penetrating aortic ulcer
HP:0031647Saccular aortic arch aneurysm
HP:0004028Spurs of radial diaphysis
HP:0004027Abnormality of radial diaphysis
HP:0031594PR segment depression
http://purl.obolibrary.org/obo/UBERON_0002517basicranium
HP:0031592Situs inversus with levocardia
HP:0031591Enlarged Eustachian valve
HP:0031598Notched P wave
HP:0031597PR segment elevation
HP:0031596Abnormal PR segment
http://purl.obolibrary.org/obo/UBERON_0002510anterior fontanel
http://purl.obolibrary.org/obo/GO_0008544epidermis development
HP:0031590Asthenopia
HP:0031599P mitrale
HP:0031595Abnormal P wave
HP:0031583Tessier number 11 facial cleft
http://purl.obolibrary.org/obo/UBERON_0002528sacral lymph node
HP:0031582Tessier number 10 facial cleft
HP:0031581Tessier number 9 facial cleft
HP:0031580Tessier number 8 facial cleft
HP:0031587Tessier number 30 facial cleft
HP:0031586Tessier number 14 facial cleft
HP:0031585Tessier number 13 facial cleft
HP:0031584Tessier number 12 facial cleft
http://purl.obolibrary.org/obo/UBERON_0002527pancreatic lymph node
http://purl.obolibrary.org/obo/UBERON_0014508distal interphalangeal joint of manual digit 3
http://purl.obolibrary.org/obo/UBERON_0007730interphalangeal joint of manual digit 3
http://purl.obolibrary.org/obo/UBERON_0014507distal interphalangeal joint of pedal digit 3
http://purl.obolibrary.org/obo/UBERON_0007726interphalangeal joint of pedal digit 3
http://purl.obolibrary.org/obo/UBERON_0007721interphalangeal joint of pes
HP:0031589Suicidal ideation
HP:0031588Unhappy demeanor
http://purl.obolibrary.org/obo/UBERON_0014506distal interphalangeal joint of digit 3
http://purl.obolibrary.org/obo/UBERON_0009768distal interphalangeal joint
HP:0031572Tessier number 1 facial cleft
HP:0031570Tessier number 0 facial cleft
HP:0100629Midline facial cleft
HP:0031576Tessier number 4 facial cleft
HP:0031575Tessier number 3 facial cleft
HP:0031573Tessier number 2 facial cleft
HP:0031571Paramedian facial cleft
http://purl.obolibrary.org/obo/UBERON_0002533post-anal tail bud
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8021NT5E (human)
HP:0031579Tessier number 7 facial cleft
HP:0031578Tessier number 6 facial cleft
HP:0100731Transverse facial cleft
HP:0031577Tessier number 5 facial cleft
HP:0031574Orbital cleft
HP:0031561Coronary cameral fistula to right ventricle
HP:0031560Coronary cameral fistula
HP:0031565Abdominal situs ambiguus
HP:0031564Bronchial isomerism
HP:0031563Coronary arteriovenous fistula
HP:0031562Balanced double aortic arch
http://purl.obolibrary.org/obo/GO_0033500carbohydrate homeostasis
HP:0031569Absent aortic valve cusps
HP:0031568Thickened aortic valve cusp
http://purl.obolibrary.org/obo/CHEBI_25512neurotransmitter
http://purl.obolibrary.org/obo/UBERON_0002506iris epithelium
http://purl.obolibrary.org/obo/UBERON_0002509mesenteric lymph node
http://purl.obolibrary.org/obo/UBERON_0002500zygomatic arch
http://purl.obolibrary.org/obo/UBERON_0002503greater trochanter
http://purl.obolibrary.org/obo/UBERON_0002504lesser trochanter
http://purl.obolibrary.org/obo/UBERON_0000980trochanter
http://purl.obolibrary.org/obo/CHEBI_25500neopterins
http://purl.obolibrary.org/obo/PR_P17679erythroid transcription factor (mouse)
http://purl.obolibrary.org/obo/PR_000007857erythroid transcription factor
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10903SLAMF1 (human)
HP:0006739Squamous cell carcinoma of the skin
HP:0002860Squamous cell carcinoma
HP:0006733Acute megakaryocytic leukemia
HP:0006732Papillary renal cell carcinoma type 2
HP:0006731Follicular thyroid carcinoma
HP:0006737Extraadrenal pheochromocytoma
HP:0006735Renal cortical adenoma
HP:0006740Transitional cell carcinoma of the bladder
HP:0002862Bladder carcinoma
HP:0006744Adrenocortical carcinoma
HP:0006743Embryonal rhabdomyosarcoma
HP:0006742Congenital neuroblastoma
HP:0006748Adrenal pheochromocytoma
HP:0002666Pheochromocytoma
HP:0100642Neoplasm of the adrenal medulla
HP:0006747Ganglioneuroblastoma
HP:0006751Paraspinal neurofibromas
HP:0006756Diffuse leiomyomatosis
HP:0006755Cutaneous leiomyosarcoma
HP:0006758Malignant genitourinary tract tumor
http://purl.obolibrary.org/obo/PR_000047056PR:000047056 located_in GO:0005576
http://purl.obolibrary.org/obo/PR_000019448ceruloplasmin, signal peptide removed form
HP:0006763Anal canal squamous carcinoma
HP:0006762Renal pelvic carcinoma
HP:0006767Pituitary prolactin cell adenoma
HP:0006765Chondrosarcoma
HP:0006769Myxoid subcutaneous tumors
HP:0006768Localized neuroblastoma
http://purl.obolibrary.org/obo/GO_0045453bone resorption
HP:0031719True distance exotropia
HP:0031718Consecutive exotropia
HP:0031717Alternating exotropia
http://purl.obolibrary.org/obo/GO_0045444fat cell differentiation
HP:0031711Asymmetric abdominal aortic aneurysm
HP:0031710Compensatory head tilt to the left shoulder
HP:0031716Cyclic exotropia
HP:0031715Near exotropia
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0031709Compensatory head tilt to the right shoulder
HP:0031708Compensatory face turn to the left
HP:0031707Compensatory face turn to the right
HP:0031706Compensatory chin depression
HP:0031701Anterior chamber inflammatory cells
HP:0031700Invasive parasitic infection
HP:0031702Anterior chamber red blood cells
HP:0006702Coronary artery dissection
HP:0006719Benign gastrointestinal tract tumors
HP:0006717Peripheral neuroepithelioma
HP:0006710Aplasia/Hypoplasia of the clavicles
HP:0000889Abnormality of the clavicle
HP:0006716Hereditary nonpolyposis colorectal carcinoma
HP:0006715Glomus tympanicum paraganglioma
HP:0006714Aplasia/Hypoplasia of the sternum
HP:0006713Aplasia/Hypoplasia of the scapulae
HP:0006729Retroperitoneal chemodectomas
http://purl.obolibrary.org/obo/CHEBI_62488signalling molecule
HP:0006723Intestinal carcinoid
HP:0006722Small intestine carcinoid
HP:0006727T-cell acute lymphoblastic leukemias
HP:0006721Acute lymphoblastic leukemia
HP:0006725Pancreatic adenocarcinoma
http://purl.obolibrary.org/obo/UBERON_0014452gustatory epithelium of tongue
HP:0031752Lateral rectus muscle overaction
HP:0031751Lateral rectus muscle underaction
http://purl.obolibrary.org/obo/UBERON_0014451tongue taste bud
http://purl.obolibrary.org/obo/UBERON_0014454visceral abdominal adipose tissue
http://purl.obolibrary.org/obo/UBERON_0014453gustatory epithelium of palate
http://purl.obolibrary.org/obo/UBERON_0002926gustatory epithelium
http://purl.obolibrary.org/obo/UBERON_0002478orbitosphenoid
http://purl.obolibrary.org/obo/UBERON_0015059orbitosphenoid endochondral element
http://purl.obolibrary.org/obo/CHEBI_25414monoatomic monocation
http://purl.obolibrary.org/obo/UBERON_0002474cerebellar peduncular complex
HP:0031756Medial rectus muscle underaction
http://purl.obolibrary.org/obo/UBERON_0014455subcutaneous abdominal adipose tissue
HP:0031754Medial rectus muscle overaction
HP:0031759Basic constant esotropia
HP:0031758Lateral rectus muscle restriction
HP:0031750Lateral rectus muscle weakness
HP:0031757Medial rectus muscle restriction
HP:0031753Medial rectus muscle weakness
HP:0031741Inferior oblique muscle underaction
http://purl.obolibrary.org/obo/UBERON_0014463cardiac ganglion
http://purl.obolibrary.org/obo/UBERON_0014464renal fat pad
http://purl.obolibrary.org/obo/UBERON_0002488helix of outer ear
http://purl.obolibrary.org/obo/UBERON_0002489coronal suture
http://purl.obolibrary.org/obo/UBERON_0002482lamellar bone
http://purl.obolibrary.org/obo/UBERON_0002483trabecular bone tissue
http://purl.obolibrary.org/obo/UBERON_0002485prostate duct
http://purl.obolibrary.org/obo/UBERON_0002486glottis
HP:0031745Superior rectus muscle overaction
HP:0031743Inferior rectus muscle overaction
HP:0031742Inferior rectus muscle underaction
HP:0031749Abnormal lateral rectus muscle physiology
HP:0031747Superior rectus muscle underaction
HP:0031746Superior rectus muscle restriction
HP:0031744Superior rectus muscle weakness
HP:0031730Axial myopia
http://purl.obolibrary.org/obo/UBERON_0002498deltopectoral crest
http://purl.obolibrary.org/obo/UBERON_0002499cochlear labyrinth
HP:0004180Short distal phalanx of the 3rd finger
HP:0009421Aplasia/Hypoplasia of the distal phalanx of the 3rd finger
HP:0009447Aplasia/Hypoplasia of the phalanges of the 3rd finger
HP:0009461Short 3rd finger
HP:0009318Aplasia/Hypoplasia of the 3rd finger
http://purl.obolibrary.org/obo/UBERON_0002490frontal suture
http://purl.obolibrary.org/obo/UBERON_0002491lambdoid suture
http://purl.obolibrary.org/obo/UBERON_0002492sagittal suture
http://purl.obolibrary.org/obo/UBERON_0002497acromion
http://purl.obolibrary.org/obo/UBERON_0014478rib skeletal system
HP:0031734Lacrimal pump failure
HP:0031733Reflex tearing
http://purl.obolibrary.org/obo/UBERON_0014477thoracic skeleton
HP:0031732Increased basal tear production
HP:0031731Increased tear production
HP:0031738Mechanical entropion
HP:0031737Cicatricial entropion
HP:0031736Involutional entropion
http://purl.obolibrary.org/obo/PR_P05533lymphocyte antigen 6A-2/6E-1 (mouse)
http://purl.obolibrary.org/obo/PR_P05532mast/stem cell growth factor receptor Kit (mouse)
HP:0031729Moderate hypermetropia
HP:0031728Mild hypermetropia
HP:0031723Secondary esotropia
HP:0031722Near esotropia
HP:0031721Sensory exotropia
HP:0031720Simulated distance exotropia
HP:0031714Distance exotropia
HP:0031727Excyclotropia
HP:0031726Incyclotropia
HP:0031792Irregular astigmatism
HP:0031791Lenticular astigmatism
HP:0031790Mixed astigmatism
HP:0031794Decreased circulating glycerol level
HP:0031793Increased serum leptin
http://purl.obolibrary.org/obo/UBERON_0002435striatum
HP:0006770Clear cell renal cell carcinoma
HP:0004112Midline nasal groove
HP:0006774Ovarian papillary adenocarcinoma
HP:0006773Cutaneous angiolipomas
HP:0006772Renal angiomyolipoma
HP:0008696Renal hamartoma
HP:0006771Duodenal adenocarcinoma
HP:0006778Benign genitourinary tract neoplasm
http://purl.obolibrary.org/obo/UBERON_0014411greater sciatic notch
HP:0031799Decreased apolipoprotein AI level
HP:0031798Elevated apolipoprotein B level
HP:0006775Multiple myeloma
http://purl.obolibrary.org/obo/GO_0070469respirasome
HP:0006779Alveolar rhabdomyosarcoma
HP:0031781Microtropia with identity
HP:0031780Eosinophilic ascites
HP:0031783Absent coronary sinus
HP:0031782Microtropia without identity
HP:0031724Microtropia
http://purl.obolibrary.org/obo/UBERON_0002443choroidal blood vessel
http://purl.obolibrary.org/obo/UBERON_0002445ulnare
http://purl.obolibrary.org/obo/UBERON_0002446patella
HP:0006781Hurthle cell thyroid adenoma
HP:0006780Parathyroid carcinoma
HP:0100733Neoplasm of the parathyroid gland
HP:0006785Limb-girdle muscular dystrophy
HP:0006784Paranasal sinus hypoplasia
HP:0006783Posterior pharyngeal cleft
http://purl.obolibrary.org/obo/UBERON_0002442axillary nerve trunk
HP:0006782Malignant eosinophil proliferation
HP:0031789Against the rule astigmatism
HP:0006789Mitochondrial encephalopathy
HP:0031788With the rule astigmatism
HP:0031787Oblique astigmatism
HP:0031786Cogan lid twitch
HP:0031770Epicanthus palpebralis
HP:0031774Posterior communicating artery infundibulum
http://purl.obolibrary.org/obo/UBERON_0014430sciatic notch
HP:0031773Posterior communicating artery aneurysm
HP:0031772Abnormal posterior circulating artery morphology
HP:0012518Abnormal circle of Willis morphology
HP:0031771Epicanthus tarsalis
http://purl.obolibrary.org/obo/UBERON_0002456internal thoracic artery
http://purl.obolibrary.org/obo/UBERON_0002457intersomitic artery
http://purl.obolibrary.org/obo/UBERON_0014907intersomitic vessel
http://purl.obolibrary.org/obo/UBERON_0002459inferior palpebral vein
http://purl.obolibrary.org/obo/UBERON_0014769palpebral vein
http://www.informatics.jax.org/marker/MGI:88476Cp (mouse)
HP:0004132Dimple on nasal tip
http://purl.obolibrary.org/obo/CHEBI_50404lipoprotein cholesterol
HP:0006790Cerebral cortex with spongiform changes
http://purl.obolibrary.org/obo/UBERON_0002451endometrial gland
HP:0006794Loss of ability to walk in first decade
http://purl.obolibrary.org/obo/UBERON_0002453ethmoid sinus
HP:0031778Incyclophoria
HP:0006799Basal ganglia cysts
HP:0031776Cyclotropia
HP:0031775Neurogenic strabismus
http://purl.obolibrary.org/obo/UBERON_0014438superior pubic ramus
http://purl.obolibrary.org/obo/UBERON_0014437iliac crest
http://purl.obolibrary.org/obo/UBERON_0014439inferior pubic ramus
HP:0031779Excyclophoria
HP:0031777Cyclophoria
HP:0031763Cyclic esotropia
HP:0031762Distance esotropia
HP:0031761Infantile constant esotropia
HP:0031760Non-accomodative esotropia
http://purl.obolibrary.org/obo/UBERON_0002465lymphoid system
http://purl.obolibrary.org/obo/UBERON_0002466intestine secretion
http://purl.obolibrary.org/obo/UBERON_0002469esophagus mucosa
http://purl.obolibrary.org/obo/UBERON_0002463muscle of posterior compartment of hindlimb stylopod
http://purl.obolibrary.org/obo/UBERON_0014445acetabular fossa
HP:0031767Consecutive esotropia
http://purl.obolibrary.org/obo/GO_0070455positive regulation of heme biosynthetic process
http://purl.obolibrary.org/obo/UBERON_0014444pubic ramus
HP:0031766Convergence excess esotropia
http://purl.obolibrary.org/obo/GO_0070454negative regulation of heme biosynthetic process
http://purl.obolibrary.org/obo/GO_0070453regulation of heme biosynthetic process
HP:0031765Partially accomodative esotropia
http://purl.obolibrary.org/obo/UBERON_0014446acetabular notch
HP:0031764Fully accomodative esotropia
HP:0031769Peripheral fixation
HP:0031768Parafoveal fixation
http://purl.obolibrary.org/obo/UBERON_0002408parietal serous pericardium
http://purl.obolibrary.org/obo/UBERON_0002409pericardial fluid
http://purl.obolibrary.org/obo/UBERON_0002400parietal pleura
http://purl.obolibrary.org/obo/UBERON_0002401visceral pleura
http://purl.obolibrary.org/obo/UBERON_0002402pleural cavity
http://purl.obolibrary.org/obo/UBERON_0002405immune system
http://purl.obolibrary.org/obo/UBERON_0002406pericardial sac
HP:0031693Severe Epstein Barr virus infection
HP:0031692Severe cytomegalovirus infection
HP:0031697Disseminated infection with live vaccine virus
HP:0031696Disseminated viral infection
HP:0031695Severe parainfluenza infection
HP:0031694Severe adenovirus infection
http://purl.obolibrary.org/obo/UBERON_0002410autonomic nervous system
http://purl.obolibrary.org/obo/UBERON_0002411clitoris
http://purl.obolibrary.org/obo/UBERON_0002415tail
http://purl.obolibrary.org/obo/UBERON_0002416integumental system
http://purl.obolibrary.org/obo/UBERON_0002417abdominal segment of trunk
HP:0031699Disseminated cryptosporidium infection
HP:0031698Disseminated Bacillus Calmette-Guerin infection
HP:0031682Type V atherosclerotic lesion
http://purl.obolibrary.org/obo/UBERON_0002429cervical lymph node
HP:0031681Type III atherosclerotic lesion
HP:0031680Type II atherosclerotic lesion
HP:0031686Increased stool alpha1-antitrypsin concentration
HP:0031684Renal artery atherosclerosis
HP:0031683Type VI atherosclerotic lesion
HP:0031678Atherosclerotic lesion
http://purl.obolibrary.org/obo/UBERON_0002421hippocampal formation
http://purl.obolibrary.org/obo/UBERON_0002422fourth ventricle
http://purl.obolibrary.org/obo/UBERON_0002423hepatobiliary system
http://purl.obolibrary.org/obo/UBERON_0002425visceral serous pericardium
http://purl.obolibrary.org/obo/UBERON_0002426chest muscle
http://purl.obolibrary.org/obo/UBERON_0002420basal ganglion
http://purl.obolibrary.org/obo/UBERON_0014401renal venous blood vessel
http://purl.obolibrary.org/obo/UBERON_0014400hepatic sinusoidal space
HP:0031689Megakaryocyte dysplasia
HP:0031688Erythroid dysplasia
HP:0031687Abnormally loud pulmonic component of the second heart sound
HP:0031661Abnormal second heart sound
http://purl.obolibrary.org/obo/PR_P05555integrin alpha-M (mouse)
http://purl.obolibrary.org/obo/GO_0008455Addition of a GlcNAc on the alpha 1,4 branch by MGAT2
http://purl.obolibrary.org/obo/GO_0008375A4GNT transfers GlcNAc to core 2 mucins
http://purl.obolibrary.org/obo/GO_0008194UDP-glycosyltransferase activity
http://purl.obolibrary.org/obo/GO_0008482Sulfite is oxidized to sulfate
http://purl.obolibrary.org/obo/GO_0008483Transamination of MOB to methionine
HP:0041049Starch intolerance
HP:0041048Decreased expression of GPI-anchored proteins on the cell surface
HP:0041045Increased neutrophil mitochondria
HP:0004099Macrodactyly
HP:0041044Low neutrophil alkaline phosphatase
HP:0041047Bladder outlet obstruction
HP:0041046Increased neutrophil ribosomes
HP:0041043Neutrophil nuclear clefts
HP:0041042Absent neutrophil lactoferrin
HP:0012551Absent neutrophil specific granules
http://purl.obolibrary.org/obo/PR_P17542PR:P17542 located_in GO:0005654
HP:0041051Ageusia
HP:0000223Abnormality of taste sensation
HP:0041050Renal tubular cyst
http://purl.obolibrary.org/obo/PR_Q13445transmembrane emp24 domain-containing protein 1 (human)
HP:0006851Symmetric spinal nerve root neurofibromas
HP:0006850Hypoplasia of the ventral pons
http://purl.obolibrary.org/obo/UBERON_0026386lumbar spinal cord white matter
HP:0006855Cerebellar vermis atrophy
HP:0006852Episodic generalized hypotonia
HP:0006859Posterior leukoencephalopathy
HP:0006858Impaired distal proprioception
http://purl.obolibrary.org/obo/CHEBI_59132antigen
HP:0006865Sensorimotor polyneuropathy affecting arms more than legs
HP:0006863Severe expressive language delay
http://purl.obolibrary.org/obo/CHEBI_35195surfactant
HP:0006873Symmetrical progressive peripheral demyelination
HP:0006870Lobar holoprosencephaly
HP:0004216Osteolytic defects of the phalanges of the 5th finger
HP:0004218Symphalangism of the 5th finger
HP:0006879Pontocerebellar atrophy
http://www.informatics.jax.org/marker/MGI:1333815Cx3cr1 (mouse)
HP:0006880Cerebellar hemangioblastoma
HP:0004220Short middle phalanx of the 5th finger
HP:0009161Aplasia/Hypoplasia of the middle phalanx of the 5th finger
HP:0009370Type A brachydactyly
HP:0004222Cone-shaped epiphysis of the distal phalanx of the 5th finger
HP:0009384Cone-shaped epiphyses of the 5th finger
HP:0006882Severe hydrocephalus
HP:0006881Diffuse peripheral demyelination
HP:0006888Meningoencephalocele
HP:0004227Short distal phalanx of the 5th finger
HP:0009239Aplasia/Hypoplasia of the distal phalanx of the 5th finger
HP:0009376Aplasia/Hypoplasia of the phalanges of the 5th finger
HP:0009237Short 5th finger
HP:0006262Aplasia/Hypoplasia of the 5th finger
HP:0006887Intellectual disability, progressive
HP:0004223Ivory epiphysis of the distal phalanx of the 5th finger
HP:0009388Ivory epiphyses of the 5th finger
HP:0100921Sclerosis of 5th finger phalanx
HP:0004224Abnormality of the epiphysis of the middle phalanx of the 5th finger
HP:0004226Curved distal phalanx of the 5th finger
HP:0004214Curved phalanges of the 5th finger
HP:0006889Intellectual disability, borderline
http://purl.obolibrary.org/obo/UBERON_0014371future telencephalon
HP:00068184-layered lissencephaly
http://purl.obolibrary.org/obo/CHEBI_59163biomarker
http://purl.obolibrary.org/obo/CHEBI_47867indicator
http://purl.obolibrary.org/obo/UBERON_0014376thenar muscle
http://purl.obolibrary.org/obo/GO_0055127vibrational conductance of sound to the inner ear
http://purl.obolibrary.org/obo/UBERON_0002391lymph
http://purl.obolibrary.org/obo/UBERON_0002392nasolacrimal duct
http://purl.obolibrary.org/obo/UBERON_0002393pharyngotympanic tube
http://purl.obolibrary.org/obo/UBERON_0002395talus
http://purl.obolibrary.org/obo/UBERON_0002396vomer
http://purl.obolibrary.org/obo/UBERON_0002397maxilla
http://purl.obolibrary.org/obo/UBERON_0002398manus
HP:0031833Hypometric upward saccades
HP:0031832Hypermetric downward saccades
HP:0031831Decreased serum zinc
HP:0031830Pinguecula
HP:0031837Decreased superoxide dismutase level
HP:0031836Increased superoxide dismutase level
HP:0031835Abnormal superoxide dismutase level
HP:0006812White mater abnormalities in the posterior periventricular region
HP:0031834Aortopulmonary collateral arteries
http://purl.obolibrary.org/obo/UBERON_0002390hematopoietic system
http://purl.obolibrary.org/obo/UBERON_0014382collection of hairs on head or neck
HP:0006829Severe muscular hypotonia
http://purl.obolibrary.org/obo/UBERON_0014381whorl of hair
http://purl.obolibrary.org/obo/UBERON_0010164collection of hairs
http://purl.obolibrary.org/obo/CHEBI_59174hapten
http://purl.obolibrary.org/obo/UBERON_0014386vertebral endplate
http://purl.obolibrary.org/obo/GO_0043143regulation of translation by machinery localization
http://purl.obolibrary.org/obo/UBERON_0014385aryepiglottic fold
http://purl.obolibrary.org/obo/UBERON_0014388kidney collecting duct epithelium
http://purl.obolibrary.org/obo/GO_0055118negative regulation of cardiac muscle contraction
http://purl.obolibrary.org/obo/GO_0055117regulation of cardiac muscle contraction
HP:0031829Absent cremaster reflex
HP:0031827Absent abdominal reflex
HP:0031822Elevated hypoxanthine-guanine phosphoribosyltransferase level
http://purl.obolibrary.org/obo/UBERON_0014389gustatory papilla of tongue
HP:0006821Frontal polymicrogyria
HP:0031820Decreased waist to hip ratio
HP:0031825Freezing of gait
HP:0006825Pallor of dorsal columns of the spinal cord
HP:0031824Hepatic mastocytosis
HP:0031823Reduced hypoxanthine-guanine phosphoribosyltransferase level
HP:0031821Abnormal hypoxanthine-guanine phosphoribosyltransferase level
http://purl.obolibrary.org/obo/UBERON_0014393sweat of axilla
http://purl.obolibrary.org/obo/UBERON_0014392sweat of palm
http://purl.obolibrary.org/obo/UBERON_0014394uterine fat pad
http://purl.obolibrary.org/obo/UBERON_0014399sinusoidal space
http://purl.obolibrary.org/obo/UBERON_0010161lumen of blood vessel
http://purl.obolibrary.org/obo/UBERON_0014398respiratory muscle
http://purl.obolibrary.org/obo/UBERON_0014391palmar/plantar sweat gland
http://purl.obolibrary.org/obo/UBERON_0000423eccrine sweat gland
http://purl.obolibrary.org/obo/UBERON_0014390muscle layer of ileum
HP:0031819Increased waist to hip ratio
HP:0031818Abnormal waist to hip ratio
HP:0031817Decreased circulating parathyroid hormone level
HP:0031811Bilirubinuria
HP:0031810Anti-ganglioside antibody positivity
HP:0006837Congenital Horner syndrome
HP:0002277Horner syndrome
HP:0031814Palilalia
HP:0031813Colonic eosinophilia
HP:0031812Nitrituria
HP:0006834Developmental stagnation at onset of seizures
HP:0006849Hypodysplasia of the corpus callosum
http://purl.obolibrary.org/obo/GO_0045780positive regulation of bone resorption
HP:0031808Decreased basophil count
HP:0031807Increased basophil count
HP:0031806Abnormal basophil count
HP:0031809Archibald's sign
HP:0006844Absent patellar reflexes
HP:0031800Elevated apolipoprotein A-II level
HP:0031804Premacular hemorrhage
http://purl.obolibrary.org/obo/GO_0045779negative regulation of bone resorption
http://purl.obolibrary.org/obo/GO_0045124regulation of bone resorption
http://purl.obolibrary.org/obo/CHEBI_23117chlorine molecular entity
http://purl.obolibrary.org/obo/CHEBI_23116chlorine atom
HP:0031873Early chronotype
HP:0031872Absent Birbeck granules in Langerhans cells
HP:0031871Abnormal Langerhans cell morphology
HP:0031870Phosphohydroxylysinuria
http://www.informatics.jax.org/marker/MGI:88338Cd44 (mouse)
http://purl.obolibrary.org/obo/UBERON_0002355pelvic region of trunk
http://www.informatics.jax.org/marker/MGI:88337Cd40lg (mouse)
http://purl.obolibrary.org/obo/UBERON_0002356perineum
http://purl.obolibrary.org/obo/UBERON_0002357serous pericardium
http://www.informatics.jax.org/marker/MGI:88335Cd4 (mouse)
http://purl.obolibrary.org/obo/UBERON_0002359fibrous pericardium
http://www.informatics.jax.org/marker/MGI:88332Cd3e (mouse)
HP:0004274Deficient ossification of hand bones
HP:0004276Exostoses of hand bones
http://purl.obolibrary.org/obo/UBERON_0002350conducting system of heart
HP:0004271Cortical thickening of hand bones
http://purl.obolibrary.org/obo/UBERON_0002352atrioventricular node
http://purl.obolibrary.org/obo/UBERON_0010131conducting tissue of heart
HP:0004272Cortical thinning of hand bones
http://www.informatics.jax.org/marker/MGI:88329Cd34 (mouse)
HP:0004273Cupped metaphyses of hand bones
HP:0031877Elevated hepcidin level
HP:0031876Decreased hepcidin level
HP:0031875Abnormal hepcidin level
HP:0031874Late chronotype
HP:0004279Short palm
HP:0031878Acromicria
HP:0031862Increased heart rate variability
HP:0031861Decreased heart rate variability
HP:0031860Abnormal heart rate variability
http://www.informatics.jax.org/marker/MGI:88326Cd27 (mouse)
http://purl.obolibrary.org/obo/UBERON_0002367prostate gland
http://purl.obolibrary.org/obo/UBERON_0010147male accessory sex gland
HP:0004290Sclerosis of hand bones with transverse striations
HP:0004291Stippled calcification of hand bones
HP:0004280Irregular ossification of hand bones
http://www.informatics.jax.org/marker/MGI:88323Cd24a (mouse)
http://www.informatics.jax.org/marker/MGI:88321Ms4a1 (mouse)
http://www.informatics.jax.org/marker/MGI:88320Cd2 (mouse)
HP:0004285Overmodelled hand bones
HP:0004287Pointed hand bones
http://www.informatics.jax.org/marker/MGI:88319Cd19 (mouse)
HP:0004283Narrow palm
http://purl.obolibrary.org/obo/UBERON_0002364tympanic membrane
http://www.informatics.jax.org/marker/MGI:88318Cd14 (mouse)
HP:0004284Notched hand bones
HP:0031866Clasp-knife sign
HP:0031864Bacteremia
HP:0004289Sclerotic foci in hand bones
HP:0031868Optic ataxia
HP:0031867Neck hypertonia
HP:0031851Reduced hematocrit
http://purl.obolibrary.org/obo/CHEBI_25798oxopentanoates
http://purl.obolibrary.org/obo/CHEBI_59836oxo fatty acid anion
http://purl.obolibrary.org/obo/CHEBI_25799oxopentanoic acid
http://purl.obolibrary.org/obo/CHEBI_59644oxo fatty acid
HP:0004296Abnormality of gastrointestinal vasculature
http://purl.obolibrary.org/obo/UBERON_0002370thymus
http://purl.obolibrary.org/obo/UBERON_0005058hemolymphoid system gland
http://purl.obolibrary.org/obo/UBERON_0002371bone marrow
HP:0004292Undermodelled hand bones
HP:0004293Synostosis of second metacarpal-trapezoid
http://purl.obolibrary.org/obo/UBERON_0002375cricoid cartilage
HP:0031858Esophageal furrows
http://purl.obolibrary.org/obo/CHEBI_84125globoside Gb4
HP:0031857Ineffective esophageal peristalsis
HP:0100771Hypoperistalsis
HP:0031856Hobby horse gait
http://purl.obolibrary.org/obo/PR_000049996active alpha-amylase isozyme (human)
http://purl.obolibrary.org/obo/PR_000049995active alpha-amylase isozyme
http://purl.obolibrary.org/obo/UBERON_0002380trapezius muscle
http://purl.obolibrary.org/obo/UBERON_0002381pectoralis major
http://purl.obolibrary.org/obo/UBERON_0002382rectus abdominis muscle
HP:0031849Sleep-wake inversion
http://purl.obolibrary.org/obo/UBERON_0002386forelimb zeugopod
http://purl.obolibrary.org/obo/UBERON_0002387pes
http://purl.obolibrary.org/obo/UBERON_0002470autopod region
HP:0031844Euphoria
HP:0031843Bradyphrenia
http://purl.obolibrary.org/obo/CHEBI_84118ganglioside GM3
http://purl.obolibrary.org/obo/CHEBI_15681alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide
HP:0031841Positive urine methadone test
HP:0031848Cock-walk gait
HP:0031847Difficulty walking backward
HP:0031846Femur fracture
http://purl.obolibrary.org/obo/UBERON_0002319mesangium
http://purl.obolibrary.org/obo/UBERON_0002315gray matter of spinal cord
http://purl.obolibrary.org/obo/CHEBI_74783astringent
http://purl.obolibrary.org/obo/UBERON_0002317white matter of cerebellum
HP:0004230Subluxation of the proximal interphalangeal joint of the little finger
HP:0006891Thick cerebral cortex
http://purl.obolibrary.org/obo/CHEBI_50748antipsoriatic
http://purl.obolibrary.org/obo/CHEBI_50177dermatologic drug
http://purl.obolibrary.org/obo/CHEBI_50745progestogen
http://purl.obolibrary.org/obo/CHEBI_50112sex hormone
HP:0004233Advanced ossification of carpal bones
HP:0004051Advanced ossification of the hand bones
HP:0006895Lower limb hypertonia
HP:0002509Limb hypertonia
HP:0006894Hypoplastic olfactory lobes
HP:0006893Severely dysplastic cerebellum
HP:0006892Frontotemporal cerebral atrophy
HP:0006899Fusion of the cerebellar hemispheres
HP:0004238Lytic defects of carpal bones
HP:0006897Cranial nerve VI palsy
HP:0006896Hypnopompic hallucinations
http://purl.obolibrary.org/obo/CHEBI_37793amino sulfonic acid
http://purl.obolibrary.org/obo/CHEBI_33551organosulfonic acid
http://purl.obolibrary.org/obo/CHEBI_33552sulfonic acid derivative
HP:0004234Bone-in-a-bone appearance of carpal bones
HP:0004236Irregular carpal bones
http://purl.obolibrary.org/obo/UBERON_0004988mucosa of cystic duct
http://purl.obolibrary.org/obo/GO_0080154regulation of fertilization
http://purl.obolibrary.org/obo/UBERON_0004986mucosa of deferent duct
http://purl.obolibrary.org/obo/UBERON_0004985mucosa of ejaculatory duct
http://purl.obolibrary.org/obo/UBERON_0004984mucosa of seminal vesicle
http://purl.obolibrary.org/obo/UBERON_0002326lamina propria of urethra
http://purl.obolibrary.org/obo/UBERON_0002327trunk of intercostal nerve
http://purl.obolibrary.org/obo/UBERON_0002328notochord
http://purl.obolibrary.org/obo/UBERON_0002329somite
HP:0004241Stippled calcification in carpal bones
HP:0004244Accessory scaphoid
HP:0004240Sclerotic foci within carpal bones
HP:0009164Abnormal calcification of the carpal bones
HP:0004249Accessory lunate
HP:0004232Accessory carpal bones
http://purl.obolibrary.org/obo/UBERON_0004983mucosa of vagina
http://purl.obolibrary.org/obo/UBERON_0004982mucosa of epiglottis
http://purl.obolibrary.org/obo/UBERON_0004987mucosa of laryngopharynx
http://purl.obolibrary.org/obo/UBERON_0000355pharyngeal mucosa
http://purl.obolibrary.org/obo/UBERON_0004980mucosa of ureter
HP:0004245Comma-shaped scaphoid
HP:0004235Comma-shaped carpal bones
HP:0004246Delayed ossification of the scaphoid
HP:0004247Small scaphoid
http://purl.obolibrary.org/obo/CHEBI_37786acyclic phosphorus acid anhydride
HP:0031891Decreased eosinophil count
HP:0031890Increased urine urobilinogen
http://purl.obolibrary.org/obo/UBERON_0004999mucosa of biliary tree
http://purl.obolibrary.org/obo/PR_000047388PR:000047388 located_in GO:0005886
http://purl.obolibrary.org/obo/UBERON_0004997mucosa of pyloric antrum
http://purl.obolibrary.org/obo/UBERON_0004998mucosa of pylorus
http://purl.obolibrary.org/obo/UBERON_0004995mucosa of body of stomach
http://purl.obolibrary.org/obo/UBERON_0002333pulmonary trunk
http://purl.obolibrary.org/obo/UBERON_0002334submandibular duct
http://purl.obolibrary.org/obo/PR_000047381PR:000047381 located_in GO:0005886
http://purl.obolibrary.org/obo/PR_000019856high affinity immunoglobulin epsilon receptor subunit alpha, signal peptide removed form
http://purl.obolibrary.org/obo/UBERON_0002336corpus callosum
http://purl.obolibrary.org/obo/UBERON_0002473intercerebral commissure
http://purl.obolibrary.org/obo/UBERON_0005340dorsal telencephalic commissure
http://purl.obolibrary.org/obo/UBERON_0019294commissure of telencephalon
http://purl.obolibrary.org/obo/UBERON_0002337endometrial stroma
http://purl.obolibrary.org/obo/UBERON_0002338lamina propria of bronchus
http://purl.obolibrary.org/obo/UBERON_0000031lamina propria of trachea
HP:0004253Absent trapezium
HP:0004254Delayed ossification of the trapezium
HP:0004255Small trapezium
http://purl.obolibrary.org/obo/UBERON_0002330exocrine system
HP:0004250Proximally placed lunate
HP:0004239Proximally placed carpal bones
http://purl.obolibrary.org/obo/UBERON_0002331umbilical cord
HP:0004251Lunate-triquetral fusion
HP:0031898Rouleaux formation
http://purl.obolibrary.org/obo/UBERON_0004993mucosa of sigmoid colon
http://purl.obolibrary.org/obo/UBERON_0004992mucosa of descending colon
http://purl.obolibrary.org/obo/UBERON_0000317colonic mucosa
HP:0004257Delayed ossification of the trapezoid bone
HP:0004258Small trapezoid bone
http://www.informatics.jax.org/marker/MGI:88340Cd5 (mouse)
HP:0031883Increased proinsulin:insulin ratio
HP:0031882Agyria
HP:0031881Decreased tear drainage
http://purl.obolibrary.org/obo/UBERON_0002345descending thoracic aorta
http://www.informatics.jax.org/marker/MGI:88348Cd9 (mouse)
http://purl.obolibrary.org/obo/UBERON_0002346neurectoderm
http://www.informatics.jax.org/marker/MGI:88347Cd8b1 (mouse)
http://purl.obolibrary.org/obo/UBERON_0002347thoracic vertebra
http://www.informatics.jax.org/marker/MGI:88346Cd8a (mouse)
http://www.informatics.jax.org/marker/MGI:88344Cd7 (mouse)
http://www.informatics.jax.org/marker/MGI:88343Cd69 (mouse)
http://www.informatics.jax.org/marker/MGI:88342Cd68 (mouse)
HP:0004263Large capitate bone
HP:0004264Narrow carpal joint spaces
HP:0004261Wide hamate bone
HP:0004260Large hamate bone
HP:0004242Broad carpal bones
HP:0004237Large carpal bones
HP:0006014Abnormally shaped carpal bones
http://purl.obolibrary.org/obo/UBERON_0002343abdomen musculature
http://www.informatics.jax.org/marker/MGI:88339Cd48 (mouse)
HP:0031887Abnormal chylomicron concentration
http://purl.obolibrary.org/obo/CHEBI_62761tyrosine derivative
HP:0031885Hyperglycorrhachia
HP:0031884Abnormal CSF glucose level
HP:0004267Narrow small joints of the hand
HP:0004268Osteoarthritis of the small joints of the hand
http://purl.obolibrary.org/obo/CHEBI_35143hemoglobin
HP:0004269Subluxation of the small joints of the hand
http://purl.obolibrary.org/obo/UBERON_0004936submucosa of pyloric antrum
http://purl.obolibrary.org/obo/UBERON_0004934submucosa of body of stomach
http://purl.obolibrary.org/obo/UBERON_0004932submucosa of sigmoid colon
http://purl.obolibrary.org/obo/UBERON_0004931submucosa of descending colon
http://purl.obolibrary.org/obo/UBERON_0004939submucosa of common bile duct
http://purl.obolibrary.org/obo/UBERON_0004937submucosa of pylorus
http://purl.obolibrary.org/obo/UBERON_0016912frenulum of upper lip
http://purl.obolibrary.org/obo/UBERON_0005031mucosa of upper lip
http://purl.obolibrary.org/obo/UBERON_0016913frenulum of lower lip
http://purl.obolibrary.org/obo/UBERON_0016910frenulum of lip
http://purl.obolibrary.org/obo/UBERON_0005032mucosa of lower lip
http://purl.obolibrary.org/obo/UBERON_0036294mucosa of lip
http://purl.obolibrary.org/obo/UBERON_0004946submucosa of ileum
http://purl.obolibrary.org/obo/UBERON_0004945submucosa of neck of urinary bladder
HP:0100041Broad 3rd toe
http://purl.obolibrary.org/obo/UBERON_0004943submucosa of urinary bladder
http://purl.obolibrary.org/obo/UBERON_0004942submucosa of left hepatic duct
HP:0100040Broad 2nd toe
http://purl.obolibrary.org/obo/UBERON_0004941submucosa of right hepatic duct
HP:0100043Broad 5th toe
HP:0100042Broad 4th toe
http://purl.obolibrary.org/obo/UBERON_0004940submucosa of common hepatic duct
http://purl.obolibrary.org/obo/UBERON_0016928metaphysis of fibula
HP:0100030Accessory ectopic thyroid tissue
http://purl.obolibrary.org/obo/UBERON_0004952submucosa of bronchiole
HP:0100034Motor tics
HP:0100036Pseudo-fractures
HP:0100035Phonic tics
HP:0100033Tics
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10720SELL (human)
HP:0100038Slow-growing scalp hair
HP:0002217Slow-growing hair
http://purl.obolibrary.org/obo/CHEBI_84087human urinary metabolite
HP:0100020Posterior capsular cataract
HP:0100023Recurrent hand flapping
http://purl.obolibrary.org/obo/UBERON_0002301layer of neocortex
http://purl.obolibrary.org/obo/UBERON_0002302myocardium of atrium
HP:0100025Overfriendliness
HP:0100024Conspicuously happy disposition
HP:0100027Recurrent pancreatitis
HP:0100026Arteriovenous malformation
http://purl.obolibrary.org/obo/UBERON_0002305layer of hippocampus
HP:0100029Lingual thyroid
http://purl.obolibrary.org/obo/UBERON_0002307choroid plexus of lateral ventricle
HP:0100028Ectopic thyroid
HP:0100010Spinal meningioma
HP:0100011Scleral schwannoma
HP:0100014Epiretinal membrane
HP:0100015Stahl ear
HP:0100017Capsular cataract
HP:0004197Symphalangism of the 4th finger
HP:0004195Osteolytic defects of the phalanges of the 4th finger
HP:0100003Peritoneal mesothelioma
HP:0100002Pleural mesothelioma
http://purl.obolibrary.org/obo/UBERON_0004908upper digestive tract
HP:0100005Testicular mesothelioma
http://purl.obolibrary.org/obo/UBERON_0004907lower digestive tract
HP:0100004Pericardial mesothelioma
HP:0100001Malignant mesothelioma
http://purl.obolibrary.org/obo/UBERON_0004906ectodermal part of digestive tract
http://purl.obolibrary.org/obo/UBERON_0004904neuron projection bundle connecting eye with brain
HP:0100009Intracranial meningioma
HP:0100008Schwannoma
http://purl.obolibrary.org/obo/UBERON_0004914duodenal papilla
http://purl.obolibrary.org/obo/UBERON_0004913hepatopancreatic ampulla
http://purl.obolibrary.org/obo/UBERON_0004912biliary bud
http://purl.obolibrary.org/obo/UBERON_0004916anal sphincter
http://purl.obolibrary.org/obo/UBERON_0004915sphincter of hepatopancreatic ampulla
http://purl.obolibrary.org/obo/UBERON_0004925submucosa of laryngopharynx
http://purl.obolibrary.org/obo/UBERON_0004924submucosa of pharynx
http://purl.obolibrary.org/obo/UBERON_0004926submucosa of cystic duct
http://purl.obolibrary.org/obo/UBERON_0004938submucosa of biliary tree
http://purl.obolibrary.org/obo/PR_P17433transcription factor PU.1 (mouse)
http://purl.obolibrary.org/obo/CHEBI_60073N-acylneuraminate
http://purl.obolibrary.org/obo/GO_0045760positive regulation of action potential
http://purl.obolibrary.org/obo/GO_0045759negative regulation of action potential
http://purl.obolibrary.org/obo/GO_0045745positive regulation of G protein-coupled receptor signaling pathway
http://purl.obolibrary.org/obo/GO_0045744negative regulation of G protein-coupled receptor signaling pathway
http://purl.obolibrary.org/obo/GO_0008277regulation of G protein-coupled receptor signaling pathway
HP:0006808Cerebral hypomyelination
http://purl.obolibrary.org/obo/GO_0045738negative regulation of DNA repair
http://purl.obolibrary.org/obo/GO_2001021negative regulation of response to DNA damage stimulus
http://purl.obolibrary.org/obo/GO_0045739positive regulation of DNA repair
http://purl.obolibrary.org/obo/GO_2001022positive regulation of response to DNA damage stimulus
HP:0006803Vivid hallucinations
HP:0000738Hallucinations
HP:0006802Abnormal anterior horn cell morphology
HP:0006801Hyperactive deep tendon reflexes
http://purl.obolibrary.org/obo/GO_0045729respiratory burst at fertilization
http://purl.obolibrary.org/obo/GO_0045728respiratory burst after phagocytosis
http://purl.obolibrary.org/obo/GO_0045721negative regulation of gluconeogenesis
http://purl.obolibrary.org/obo/GO_0045722positive regulation of gluconeogenesis
http://purl.obolibrary.org/obo/GO_0006111regulation of gluconeogenesis
http://purl.obolibrary.org/obo/GO_0045724positive regulation of cilium assembly
http://purl.obolibrary.org/obo/PR_000001950tumor necrosis factor ligand superfamily member 5
http://purl.obolibrary.org/obo/PR_000001944transcription factor PU.1
http://purl.obolibrary.org/obo/GO_0045701negative regulation of spermatid nuclear differentiation
http://purl.obolibrary.org/obo/GO_0045702positive regulation of spermatid nuclear differentiation
http://purl.obolibrary.org/obo/GO_0045700regulation of spermatid nuclear differentiation
http://purl.obolibrary.org/obo/GO_1903353regulation of nucleus organization
HP:0004319Decreased circulating aldosterone level
HP:0031917Digital ulcer
HP:0031915Stable
HP:0006970Periventricular leukomalacia
HP:0031919Juvenile type ovarian granulosa cell tumor
http://purl.obolibrary.org/obo/PR_Q13291signaling lymphocytic activation molecule (human)
HP:0006976Necrotizing encephalopathy
HP:0031914Fluctuating
HP:0031913Rhombencephalosynapsis
HP:0006979Sleep-wake cycle disturbance
HP:0031912Trigeminal anesthesia
HP:0006978Dysmyelinating leukodystrophy
HP:0031911Abnormal fifth cranial nerve physiology
HP:0006977Grammar-specific speech disorder
http://purl.obolibrary.org/obo/GO_0043062extracellular structure organization
http://purl.obolibrary.org/obo/CHEBI_50689reproductive control drug
HP:0031907Anti-mitochondrial M2 antibody positivity
HP:0031906Decreased total hemolytic complement activity
HP:0031905Increased total hemolytic complement activity
HP:0031904Abnormal total hemolytic complement activity
HP:0006983Slowly progressive spastic quadriparesis
HP:0002478Progressive spastic quadriplegia
HP:0031909Unicornuate uterus
HP:0006980Progressive leukoencephalopathy
HP:0031908Micrographia
HP:0004326Cachexia
HP:0006986Upper limb spasticity
HP:0006984Distal sensory loss of all modalities
HP:0031903Abnormal circulating selenium concentration
HP:0031902Decreased serum mast cell beta-tryptase concentration
HP:0006989Dysplastic corpus callosum
HP:0031901Increased serum mast cell beta-tryptase concentration
HP:0006988Alobar holoprosencephaly
HP:0031900Abnormal serum mast cell beta-tryptase concentration
HP:0006990Myelin-dependent gliosis
http://purl.obolibrary.org/obo/CHEBI_47042hydroxycalciol
HP:0006994Diffuse leukoencephalopathy
http://purl.obolibrary.org/obo/UBERON_0026246sacral spinal cord white matter
http://purl.obolibrary.org/obo/UBERON_0002318white matter of spinal cord
HP:0006992Anterior basal encephalocele
http://purl.obolibrary.org/obo/UBERON_4200172neck of humerus
HP:0004333Bone-marrow foam cells
HP:0006999Basal ganglia gliosis
HP:0004336Myelin outfoldings
HP:0004344Abnormality of cerebrosidase metabolism
HP:0004347Weakness of muscles of respiration
HP:0006938Impaired vibration sensation at ankles
HP:0006886Impaired distal vibration sensation
HP:0006937Impaired distal tactile sensation
HP:0002936Distal sensory impairment
HP:0031950Usual interstitial pneumonia
http://purl.obolibrary.org/obo/UBERON_0002279vestibular aqueduct
http://purl.obolibrary.org/obo/GO_0055007cardiac muscle cell differentiation
http://purl.obolibrary.org/obo/GO_0035051cardiocyte differentiation
http://purl.obolibrary.org/obo/UBERON_0002270hyaloid artery
http://purl.obolibrary.org/obo/UBERON_0005492hyaloid vessel
HP:0031959Leg dystonia
http://purl.obolibrary.org/obo/UBERON_0002275reticular formation
HP:0006932Transient psychotic episodes
HP:0000725Psychotic episodes
HP:0031954Dystonic gait
HP:0031953Cautious gait
HP:0006931Lipoma of corpus callosum
HP:0006866Midline central nervous system lipomas
HP:0031952Neurogenic claudication
HP:0006930Frontoparietal cortical dysplasia
HP:0031951Nocturnal seizures
http://purl.obolibrary.org/obo/CHEBI_60039L-proline zwitterion
HP:0031958Spastic paraparetic gait
HP:0031957Spastic hemiparetic gait
HP:0031956Elevated serum aspartate aminotransferase
HP:0031955Antalgic gait
HP:0006949Episodic peripheral neuropathy
http://purl.obolibrary.org/obo/UBERON_0002289midbrain cerebral aqueduct
HP:0031949Recurrent bacterial upper respiratory tract infections
HP:0031948Snowball lesion of corpus callosum
http://purl.obolibrary.org/obo/UBERON_0002286third ventricle
http://purl.obolibrary.org/obo/UBERON_0002288choroid plexus of third ventricle
HP:0031943Akathisia
HP:0000711Restlessness
HP:0006943Diffuse spongiform leukoencephalopathy
HP:0031942Congenital absence of portal vein
HP:0031947Tongue tremor
HP:0031946Elevated urinary N,N-dimethylglycine level
HP:0031945Elevated N,N-dimethylglycine level
HP:0031944Pleural thickening
HP:0006944Abolished vibration sense
HP:0006959Proximal spinal muscular atrophy
http://purl.obolibrary.org/obo/GO_0045671negative regulation of osteoclast differentiation
http://purl.obolibrary.org/obo/GO_0045672positive regulation of osteoclast differentiation
http://purl.obolibrary.org/obo/GO_0045670regulation of osteoclast differentiation
HP:0031939Conus terminalis arteriovenous malformation
http://purl.obolibrary.org/obo/UBERON_0002293costochondral joint
http://purl.obolibrary.org/obo/UBERON_0002294biliary system
http://purl.obolibrary.org/obo/GO_0043009chordate embryonic development
HP:0031937Tachylalia
http://purl.obolibrary.org/obo/UBERON_0002296dorsal mesentery
http://purl.obolibrary.org/obo/UBERON_0002298brainstem
HP:0031932Aorto-left ventricular tunnel
HP:0031931Ocular flutter
http://purl.obolibrary.org/obo/CHEBI_60059dermatan anion
HP:0031930Neurocytic rosette
http://purl.obolibrary.org/obo/GO_0045666positive regulation of neuron differentiation
http://purl.obolibrary.org/obo/GO_0045665negative regulation of neuron differentiation
http://purl.obolibrary.org/obo/GO_0045664regulation of neuron differentiation
HP:0006951Retrocerebellar cyst
HP:0031936Delayed ability to walk
http://purl.obolibrary.org/obo/GO_0045668negative regulation of osteoblast differentiation
HP:0006957Loss of ability to walk
HP:0031935Ascending aorta hypoplasia
HP:0031784Abnormal ascending aorta morphology
HP:0006956Dilation of lateral ventricles
http://purl.obolibrary.org/obo/UBERON_0002290choroid plexus of fourth ventricle
HP:0006955Olivopontocerebellar hypoplasia
HP:0012110Hypoplasia of the pons
HP:0031933Aorto-right ventricular tunnel
http://purl.obolibrary.org/obo/UBERON_0002291central canal of spinal cord
http://purl.obolibrary.org/obo/GO_0045669positive regulation of osteoblast differentiation
http://purl.obolibrary.org/obo/GO_0045667regulation of osteoblast differentiation
http://purl.obolibrary.org/obo/GO_0045778positive regulation of ossification
HP:0031929Perivascular pseudorosette
HP:0031928True ependymal rosette
HP:0031927Flexner-Wintersteiner rosette
HP:0031926Homer Wright rosette
HP:0006961Jerky head movements
HP:0002457Abnormal head movements
HP:0006960Choroid plexus calcification
HP:0006965Acute necrotizing encephalopathy
HP:0006846Acute encephalopathy
HP:0031921Gastrocnemius myalgia
http://purl.obolibrary.org/obo/GO_0045653negative regulation of megakaryocyte differentiation
HP:0006964Cerebral cortical neurodegeneration
HP:0031920Malignant ovarian granulosa cell tumor
HP:0006962Gait instability, worse in the dark
HP:0002317Unsteady gait
http://purl.obolibrary.org/obo/GO_0045654positive regulation of megakaryocyte differentiation
http://purl.obolibrary.org/obo/GO_0045652regulation of megakaryocyte differentiation
HP:0031925Rosette
http://purl.obolibrary.org/obo/CHEBI_60065alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-N-acylsphingosine(1-)
http://purl.obolibrary.org/obo/CHEBI_88071monosialodiglycosylceramide(1-)
http://purl.obolibrary.org/obo/GO_0045657positive regulation of monocyte differentiation
HP:0031924Rope sign
http://purl.obolibrary.org/obo/GO_0045656negative regulation of monocyte differentiation
http://purl.obolibrary.org/obo/GO_0045655regulation of monocyte differentiation
HP:0031923Hematocolpos
HP:0031922Renal artery duplication
HP:0031990Chvostek sign
HP:0031994Bronchial breath sound
HP:0031993Hoffmann sign
HP:0031992Apical hypertrophic cardiomyopathy
HP:0031991Increased urinary excretion of galactosyl hydroxylysine
http://purl.obolibrary.org/obo/GO_0033673negative regulation of kinase activity
http://purl.obolibrary.org/obo/GO_0031012extracellular matrix
http://purl.obolibrary.org/obo/GO_0033674positive regulation of kinase activity
http://purl.obolibrary.org/obo/UBERON_0002235tubercle of rib
http://purl.obolibrary.org/obo/UBERON_0002237true rib
http://purl.obolibrary.org/obo/UBERON_0002239floating rib
http://purl.obolibrary.org/obo/UBERON_0002238false rib
HP:0004395Malnutrition
HP:0004396Poor appetite
HP:0004392Prune belly
http://purl.obolibrary.org/obo/UBERON_0002231body of rib
HP:0004394Multiple gastric polyps
HP:0031998Late inspiratory crackles
http://purl.obolibrary.org/obo/CHEBI_37631beta-L-glucose
HP:0031997Early inspiratory crackles
HP:0031996Inspiratory crackles
HP:0031995Squawks
HP:0004399Congenital pyloric atresia
HP:0031999Expiratory crackles
http://purl.obolibrary.org/obo/UBERON_0016880future nervous system
HP:0031982Abnormal putamen morphology
HP:0031981Elevated urine glycolate
http://purl.obolibrary.org/obo/UBERON_0002245cerebellar hemisphere
http://purl.obolibrary.org/obo/CHEBI_37627L-glucopyranose
http://purl.obolibrary.org/obo/UBERON_0002240spinal cord
http://purl.obolibrary.org/obo/UBERON_0002241chondrocranium
http://purl.obolibrary.org/obo/UBERON_0002242nucleus pulposus
http://purl.obolibrary.org/obo/UBERON_0002244premaxilla
HP:0031987Diminished ability to concentrate
HP:0031986Polyminimyoclonus
http://purl.obolibrary.org/obo/UBERON_0016887entire extraembryonic component
HP:0031985Esophageal exudate
HP:0031984Esophageal food impaction
http://purl.obolibrary.org/obo/CHEBI_37624L-glucose
HP:0031989Perioral spasm
http://purl.obolibrary.org/obo/CHEBI_23019carbonyl group
HP:0031972Presyncope
HP:0031971Subaortic ventricular septal bulge
http://purl.obolibrary.org/obo/UBERON_0002257ventral horn of spinal cord
http://purl.obolibrary.org/obo/UBERON_0002258dorsal funiculus of spinal cord
HP:0031976Increased vertical cup-to-disc ratio - 0.8
HP:0031975Increased vertical cup-to-disc ratio - 0.7
HP:0031974Increased vertical cup-to-disc ratio - 0.6
HP:0031978Increased vertical cup-to-disc ratio - 1.0
HP:0031977Increased vertical cup-to-disc ratio - 0.9
HP:0031973Increased vertical cup-to-disc ratio
HP:0012796Increased cup-to-disc ratio
http://purl.obolibrary.org/obo/GO_0006094gluconeogenesis
http://purl.obolibrary.org/obo/GO_0006096glycolytic process
http://purl.obolibrary.org/obo/CHEBI_49637hydrogen atom
HP:0031960Arm dystonia
HP:0002451Limb dystonia
http://purl.obolibrary.org/obo/GO_0006099tricarboxylic acid cycle
http://purl.obolibrary.org/obo/UBERON_0002268olfactory organ
http://purl.obolibrary.org/obo/GO_0031049programmed DNA elimination
http://purl.obolibrary.org/obo/CHEBI_23004carbamoyl group
http://purl.obolibrary.org/obo/CHEBI_27207univalent carboacyl group
http://purl.obolibrary.org/obo/UBERON_0002263lentiform nucleus
http://purl.obolibrary.org/obo/GO_0031052chromosome breakage
http://purl.obolibrary.org/obo/UBERON_0002264olfactory bulb
HP:0031965Increased RBC distribution width
HP:0031964Elevated serum alanine aminotransferase
HP:0031963Decreased serum anion gap
HP:0031962Elevated serum anion gap
HP:0031961Abnormal serum anion gap
HP:0031969Reduced blood urea nitrogen
HP:0031967Cloudy urine
http://purl.obolibrary.org/obo/GO_0006090pyruvate metabolic process
http://purl.obolibrary.org/obo/UBERON_0004857skeletal muscle connective tissue
HP:0004353Abnormal circulating pyrimidine concentration
http://purl.obolibrary.org/obo/UBERON_0004851aorta endothelium
http://purl.obolibrary.org/obo/UBERON_0004850lymph node endothelium
http://purl.obolibrary.org/obo/GO_0055092sterol homeostasis
http://purl.obolibrary.org/obo/UBERON_0004869parietal organ
http://purl.obolibrary.org/obo/UBERON_0004867orbital cavity
http://purl.obolibrary.org/obo/UBERON_0004864vasculature of retina
http://purl.obolibrary.org/obo/UBERON_0004863thoracic sympathetic nerve trunk
http://purl.obolibrary.org/obo/UBERON_0002202submucosa of trachea
http://purl.obolibrary.org/obo/UBERON_0002204musculoskeletal system
http://purl.obolibrary.org/obo/UBERON_0002207xiphoid process
http://purl.obolibrary.org/obo/UBERON_0002208sternebra
http://purl.obolibrary.org/obo/GO_0055088lipid homeostasis
http://purl.obolibrary.org/obo/CHEBI_37661glucopyranose
http://purl.obolibrary.org/obo/CHEBI_17234glucose
http://purl.obolibrary.org/obo/UBERON_0004876urogenital fold
http://purl.obolibrary.org/obo/UBERON_0004875nephrogenic cord
http://purl.obolibrary.org/obo/CHEBI_741548ethylmalonic acid
http://purl.obolibrary.org/obo/UBERON_0004874somatopleure
http://purl.obolibrary.org/obo/GO_0055069zinc ion homeostasis
HP:0004373Focal dystonia
http://purl.obolibrary.org/obo/CHEBI_50646bone density conservation agent
http://purl.obolibrary.org/obo/GO_0055071manganese ion homeostasis
http://purl.obolibrary.org/obo/GO_0055076transition metal ion homeostasis
http://purl.obolibrary.org/obo/UBERON_0004873splanchnopleure
http://purl.obolibrary.org/obo/UBERON_0004872splanchnic layer of lateral plate mesoderm
http://purl.obolibrary.org/obo/UBERON_0016854dorsal part of optic cup
http://purl.obolibrary.org/obo/UBERON_0016855ventral part of optic cup
http://purl.obolibrary.org/obo/UBERON_0004871somatic layer of lateral plate mesoderm
http://purl.obolibrary.org/obo/GO_0043084penile erection
http://purl.obolibrary.org/obo/UBERON_0002224thoracic cavity
HP:0004384Type I truncus arteriosus
http://purl.obolibrary.org/obo/GO_0055062phosphate ion homeostasis
http://purl.obolibrary.org/obo/GO_0072505divalent inorganic anion homeostasis
http://purl.obolibrary.org/obo/GO_0072506trivalent inorganic anion homeostasis
HP:0004385Protracted diarrhea
HP:0004387Enterocolitis
http://purl.obolibrary.org/obo/GO_0055067monovalent inorganic cation homeostasis
HP:0004380Aortic valve calcification
HP:0004381Supravalvular aortic stenosis
http://purl.obolibrary.org/obo/GO_0055064chloride ion homeostasis
http://purl.obolibrary.org/obo/GO_0055083monovalent inorganic anion homeostasis
http://purl.obolibrary.org/obo/GO_0055081anion homeostasis
http://purl.obolibrary.org/obo/UBERON_0004883lung mesenchyme
http://purl.obolibrary.org/obo/UBERON_0004880chordamesoderm
HP:0004389Intestinal pseudo-obstruction
http://purl.obolibrary.org/obo/CHEBI_62643anionic phospholipid
HP:0100171Cone-shaped epiphysis of the distal phalanx of the 4th toe
http://purl.obolibrary.org/obo/UBERON_0004813seminiferous tubule epithelium
http://purl.obolibrary.org/obo/UBERON_0004812male prepuce epithelium
HP:0100170Bracket epiphysis of the distal phalanx of the 4th toe
http://purl.obolibrary.org/obo/UBERON_0004811endometrium epithelium
HP:0100173Fragmentation of the epiphysis of the distal phalanx of the 4th toe
http://purl.obolibrary.org/obo/UBERON_0004810nephron tubule epithelium
HP:0100172Enlarged epiphysis of the distal phalanx of the 4th toe
HP:0100175Ivory epiphysis of the distal phalanx of the 4th toe
HP:0100174Irregular epiphysis of the distal phalanx of the 4th toe
HP:0100177Small epiphysis of the distal phalanx of the 4th toe
HP:0100176Pseudoepiphysis of the distal phalanx of the 4th toe
http://purl.obolibrary.org/obo/GO_0006000fructose metabolic process
HP:0100179Triangular epiphysis of the distal phalanx of the 4th toe
HP:0100178Stippling of the epiphysis of the distal phalanx of the 4th toe
http://purl.obolibrary.org/obo/UBERON_0004817lacrimal gland epithelium
http://purl.obolibrary.org/obo/GO_0006006glucose metabolic process
http://purl.obolibrary.org/obo/UBERON_0004816larynx epithelium
HP:0100160Enlarged epiphysis of the proximal phalanx of the 3rd toe
http://purl.obolibrary.org/obo/UBERON_0004823intrahepatic bile duct epithelium
HP:0100162Irregular epiphysis of the proximal phalanx of the 3rd toe
http://purl.obolibrary.org/obo/UBERON_0004822extrahepatic bile duct epithelium
HP:0100161Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe
http://purl.obolibrary.org/obo/UBERON_0004820bile duct epithelium
http://purl.obolibrary.org/obo/UBERON_0034932epithelium of biliary system
HP:0100164Pseudoepiphysis of the proximal phalanx of the 3rd toe
HP:0100163Ivory epiphysis of the proximal phalanx of the 3rd toe
HP:0100166Stippling of the epiphysis of the proximal phalanx of the 3rd toe
HP:0100165Small epiphysis of the proximal phalanx of the 3rd toe
HP:0100167Triangular epiphysis of the proximal phalanx of the 3rd toe
http://purl.obolibrary.org/obo/UBERON_0004829urethra skeletal muscle tissue
HP:0100169Absent epiphysis of the distal phalanx of the 4th toe
HP:0100094Abnormality of the epiphysis of the distal phalanx of the 4th toe
http://purl.obolibrary.org/obo/UBERON_0004827thyroid gland medulla
http://purl.obolibrary.org/obo/UBERON_0004835epididymis smooth muscle
http://purl.obolibrary.org/obo/UBERON_0004834hepatic duct smooth muscle
HP:0100151Irregular epiphysis of the middle phalanx of the 3rd toe
http://www.informatics.jax.org/marker/MGI:88271Cat (mouse)
http://purl.obolibrary.org/obo/UBERON_0004833lip skeletal muscle
HP:0100150Fragmentation of the epiphysis of the middle phalanx of the 3rd toe
http://purl.obolibrary.org/obo/UBERON_0004832anal region skeletal muscle
http://purl.obolibrary.org/obo/UBERON_0004831esophagus skeletal muscle
HP:0100153Pseudoepiphysis of the middle phalanx of the 3rd toe
HP:0100152Ivory epiphysis of the middle phalanx of the 3rd toe
http://purl.obolibrary.org/obo/PR_000025813receptor-type tyrosine-protein phosphatase C isoform CD45R, signal peptide removed glycosylated form
HP:0100155Stippling of the epiphysis of the middle phalanx of the 3rd toe
HP:0100154Small epiphysis of the middle phalanx of the 3rd toe
HP:0100157Absent epiphysis of the proximal phalanx of the 3rd toe
HP:0100156Triangular epiphysis of the middle phalanx of the 3rd toe
HP:0100159Cone-shaped epiphysis of the proximal phalanx of the 3rd toe
HP:0100158Bracket epiphysis of the proximal phalanx of the 3rd toe
HP:0100093Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
http://purl.obolibrary.org/obo/GO_0006029proteoglycan metabolic process
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8149OPLAH (human)
http://purl.obolibrary.org/obo/PR_000025805receptor-type tyrosine-protein phosphatase C isoform CD45RABC, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001014receptor-type tyrosine-protein phosphatase C isoform CD45RABC
http://purl.obolibrary.org/obo/UBERON_0004848respiratory system arterial endothelium
HP:0100140Irregular epiphysis of the distal phalanx of the 3rd toe
HP:0100060Irregular epiphyses of the 3rd toe
HP:0100142Pseudoepiphysis of the distal phalanx of the 3rd toe
HP:0100062Pseudoepiphyses of the 3rd toe
HP:0100141Ivory epiphysis of the distal phalanx of the 3rd toe
HP:0100061Ivory epiphyses of the 3rd toe
HP:0100144Stippling of the epiphysis of the distal phalanx of the 3rd toe
HP:0100064Stippling of the epiphyses of the 3rd toe
http://purl.obolibrary.org/obo/GO_0006012galactose metabolic process
HP:0100143Small epiphysis of the distal phalanx of the 3rd toe
HP:0100063Small epiphyses of the 3rd toe
HP:0100146Absent epiphysis of the middle phalanx of the 3rd toe
HP:0100145Triangular epiphysis of the distal phalanx of the 3rd toe
HP:0100065Triangular epiphyses of the 3rd toe
HP:0100148Cone-shaped epiphysis of the middle phalanx of the 3rd toe
HP:0100147Bracket epiphysis of the middle phalanx of the 3rd toe
HP:0100149Enlarged epiphysis of the middle phalanx of the 3rd toe
HP:0100092Abnormality of the epiphysis of the middle phalanx of the 3rd toe
http://purl.obolibrary.org/obo/UBERON_0004849respiratory system venous endothelium
http://purl.obolibrary.org/obo/PR_000025814receptor-type tyrosine-protein phosphatase C isoform CD45RA, signal peptide removed glycosylated form
http://purl.obolibrary.org/obo/PR_000037069glycoprotein
http://purl.obolibrary.org/obo/PR_000025806receptor-type tyrosine-protein phosphatase C isoform CD45RA, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001015receptor-type tyrosine-protein phosphatase C isoform CD45RA
http://purl.obolibrary.org/obo/PR_000050216receptor-type tyrosine-protein phosphatase C isoform CD45R
HP:0100131Stippling of the epiphysis of the proximal phalanx of the 2nd toe
HP:0100130Small epiphysis of the proximal phalanx of the 2nd toe
HP:0100133Abnormality of the pubic hair
HP:0100132Triangular epiphysis of the proximal phalanx of the 2nd toe
HP:0100135Absent epiphysis of the distal phalanx of the 3rd toe
HP:0100055Absent epiphyses of the 3rd toe
HP:0100134Abnormality of the axillary hair
HP:0100137Cone-shaped epiphysis of the distal phalanx of the 3rd toe
HP:0100057Cone-shaped epiphyses of the 3rd toe
HP:0100136Bracket epiphysis of the distal phalanx of the 3rd toe
HP:0100056Bracket epiphyses of the 3rd toe
http://purl.obolibrary.org/obo/CHEBI_131565steroid aldehyde
HP:0100139Fragmentation of the epiphysis of the distal phalanx of the 3rd toe
HP:0100059Fragmentation of the epiphyses of the 3rd toe
HP:0100138Enlarged epiphysis of the distal phalanx of the 3rd toe
HP:0100091Abnormality of the epiphysis of the distal phalanx of the 3rd toe
HP:0100058Enlarged epiphyses of the 3rd toe
HP:0010329Abnormality of the epiphyses of the 3rd toe
HP:0100120Stippling of the epiphysis of the middle phalanx of the 2nd toe
HP:0100122Absent epiphysis of the proximal phalanx of the 2nd toe
HP:0100121Triangular epiphysis of the middle phalanx of the 2nd toe
HP:0100124Cone-shaped epiphysis of the proximal phalanx of the 2nd toe
HP:0100123Bracket epiphysis of the proximal phalanx of the 2nd toe
HP:0100126Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe
HP:0100125Enlarged epiphysis of the proximal phalanx of the 2nd toe
HP:0100128Ivory epiphysis of the proximal phalanx of the 2nd toe
HP:0100127Irregular epiphysis of the proximal phalanx of the 2nd toe
HP:0100129Pseudoepiphysis of the proximal phalanx of the 2nd toe
HP:0100090Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
HP:0100111Absent epiphysis of the middle phalanx of the 2nd toe
HP:0100110Triangular epiphysis of the distal phalanx of the 2nd toe
HP:0100054Triangular epiphyses of the 2nd toe
http://purl.obolibrary.org/obo/GO_0006066alcohol metabolic process
HP:0100113Cone-shaped epiphysis of the middle phalanx of the 2nd toe
HP:0100112Bracket epiphysis of the middle phalanx of the 2nd toe
HP:0100115Fragmentation of the epiphysis of the middle phalanx of the 2nd toe
HP:0100114Enlarged epiphysis of the middle phalanx of the 2nd toe
HP:0100117Ivory epiphysis of the middle phalanx of the 2nd toe
HP:0100116Irregular epiphysis of the middle phalanx of the 2nd toe
HP:0100119Small epiphysis of the middle phalanx of the 2nd toe
HP:0100118Pseudoepiphysis of the middle phalanx of the 2nd toe
HP:0100089Abnormality of the epiphysis of the middle phalanx of the 2nd toe
http://purl.obolibrary.org/obo/UBERON_0004803penis epithelium
http://purl.obolibrary.org/obo/CHEBI_25629octadecanoate
http://purl.obolibrary.org/obo/CHEBI_78125fatty acid anion 18:0
HP:0100100Absent epiphysis of the distal phalanx of the 2nd toe
HP:0100044Absent epiphyses of the 2nd toe
HP:0100102Cone-shaped epiphysis of the distal phalanx of the 2nd toe
HP:0100046Cone-shaped epiphyses of the 2nd toe
HP:0100101Bracket epiphysis of the distal phalanx of the 2nd toe
HP:0100045Bracket epiphyses of the 2nd toe
HP:0100104Fragmentation of the epiphysis of the distal phalanx of the 2nd toe
HP:0100048Fragmentation of the epiphyses of the 2nd toe
HP:0100103Enlarged epiphysis of the distal phalanx of the 2nd toe
HP:0100047Enlarged epiphyses of the 2nd toe
HP:0100106Ivory epiphysis of the distal phalanx of the 2nd toe
HP:0100050Ivory epiphyses of the 2nd toe
http://purl.obolibrary.org/obo/UBERON_0004806vas deferens epithelium
HP:0100105Irregular epiphysis of the distal phalanx of the 2nd toe
HP:0100049Irregular epiphyses of the 2nd toe
http://purl.obolibrary.org/obo/UBERON_0004805seminal vesicle epithelium
http://purl.obolibrary.org/obo/UBERON_0004910epithelium of male gonad
HP:0100108Small epiphysis of the distal phalanx of the 2nd toe
HP:0100052Small epiphyses of the 2nd toe
HP:0100107Pseudoepiphysis of the distal phalanx of the 2nd toe
HP:0100051Pseudoepiphyses of the 2nd toe
HP:0100109Stippling of the epiphysis of the distal phalanx of the 2nd toe
HP:0100088Abnormality of the epiphysis of the distal phalanx of the 2nd toe
HP:0010356Abnormality of the distal phalanx of the 2nd toe
HP:0100053Stippling of the epiphyses of the 2nd toe
HP:0010323Abnormality of the epiphyses of the 2nd toe
http://purl.obolibrary.org/obo/GO_0045651positive regulation of macrophage differentiation
http://purl.obolibrary.org/obo/GO_0045650negative regulation of macrophage differentiation
http://purl.obolibrary.org/obo/GO_0045649regulation of macrophage differentiation
http://purl.obolibrary.org/obo/GO_0045642positive regulation of basophil differentiation
http://purl.obolibrary.org/obo/GO_0030854positive regulation of granulocyte differentiation
http://purl.obolibrary.org/obo/GO_0045641negative regulation of basophil differentiation
http://purl.obolibrary.org/obo/GO_0030853negative regulation of granulocyte differentiation
http://purl.obolibrary.org/obo/GO_0045648positive regulation of erythrocyte differentiation
http://purl.obolibrary.org/obo/GO_0045647negative regulation of erythrocyte differentiation
http://purl.obolibrary.org/obo/GO_0045646regulation of erythrocyte differentiation
HP:0006906Congenital intracerebral calcification
HP:0006904Late-onset spinocerebellar degeneration
http://purl.obolibrary.org/obo/GO_0045640regulation of basophil differentiation
http://purl.obolibrary.org/obo/GO_0030852regulation of granulocyte differentiation
HP:0006903Congenital peripheral neuropathy
HP:0006901Impaired thermal sensitivity
HP:0006918Diffuse cerebral sclerosis
HP:0006916Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
HP:0006915Inability to walk by childhood/adolescence
HP:0002505Progressive inability to walk
HP:0002540Inability to walk
http://purl.obolibrary.org/obo/CHEBI_3564165-ammoniolevulinate
HP:0006919Abnormal aggressive, impulsive or violent behavior
http://purl.obolibrary.org/obo/SO_0000010protein_coding
http://purl.obolibrary.org/obo/GO_0045620negative regulation of lymphocyte differentiation
http://purl.obolibrary.org/obo/GO_0045621positive regulation of lymphocyte differentiation
HP:0006913Frontal cortical atrophy
HP:0006929Hypoglycemic encephalopathy
HP:0006927Unilateral polymicrogyria
HP:0006926Metachromatic leukodystrophy variant
http://purl.obolibrary.org/obo/GO_0045617negative regulation of keratinocyte differentiation
http://purl.obolibrary.org/obo/GO_0045619regulation of lymphocyte differentiation
http://purl.obolibrary.org/obo/GO_0045618positive regulation of keratinocyte differentiation
http://purl.obolibrary.org/obo/GO_0045616regulation of keratinocyte differentiation
HP:0006921Axial muscle stiffness
http://purl.obolibrary.org/obo/GO_0045606positive regulation of epidermal cell differentiation
http://purl.obolibrary.org/obo/GO_0045684positive regulation of epidermis development
http://purl.obolibrary.org/obo/GO_0030858positive regulation of epithelial cell differentiation
http://purl.obolibrary.org/obo/GO_0045605negative regulation of epidermal cell differentiation
http://purl.obolibrary.org/obo/GO_0045683negative regulation of epidermis development
http://purl.obolibrary.org/obo/GO_0030857negative regulation of epithelial cell differentiation
http://purl.obolibrary.org/obo/GO_0045600positive regulation of fat cell differentiation
http://purl.obolibrary.org/obo/GO_0045598regulation of fat cell differentiation
http://purl.obolibrary.org/obo/GO_0045604regulation of epidermal cell differentiation
http://purl.obolibrary.org/obo/GO_0045682regulation of epidermis development
http://purl.obolibrary.org/obo/GO_0030856regulation of epithelial cell differentiation
HP:0100191Absent epiphysis of the proximal phalanx of the 4th toe
HP:0100190Triangular epiphysis of the middle phalanx of the 4th toe
HP:0100193Cone-shaped epiphysis of the proximal phalanx of the 4th toe
HP:0100192Bracket epiphysis of the proximal phalanx of the 4th toe
HP:0100195Fragmentation of the epiphysis of the proximal phalanx of the 4th toe
HP:0100194Enlarged epiphysis of the proximal phalanx of the 4th toe
HP:0100197Ivory epiphysis of the proximal phalanx of the 4th toe
HP:0100196Irregular epiphysis of the proximal phalanx of the 4th toe
HP:0100199Small epiphysis of the proximal phalanx of the 4th toe
HP:0100198Pseudoepiphysis of the proximal phalanx of the 4th toe
HP:0100180Absent epiphysis of the middle phalanx of the 4th toe
HP:0100066Absent epiphyses of the 4th toe
HP:0100182Cone-shaped epiphysis of the middle phalanx of the 4th toe
HP:0100068Cone-shaped epiphyses of the 4th toe
HP:0100181Bracket epiphysis of the middle phalanx of the 4th toe
HP:0100067Bracket epiphyses of the 4th toe
HP:0100184Fragmentation of the epiphysis of the middle phalanx of the 4th toe
HP:0100070Fragmentation of the epiphyses of the 4th toe
HP:0100183Enlarged epiphysis of the middle phalanx of the 4th toe
HP:0100069Enlarged epiphyses of the 4th toe
HP:0100186Ivory epiphysis of the middle phalanx of the 4th toe
HP:0100072Ivory epiphyses of the 4th toe
HP:0100185Irregular epiphysis of the middle phalanx of the 4th toe
HP:0100071Irregular epiphyses of the 4th toe
HP:0100188Small epiphysis of the middle phalanx of the 4th toe
HP:0100074Small epiphyses of the 4th toe
HP:0100187Pseudoepiphysis of the middle phalanx of the 4th toe
HP:0100073Pseudoepiphyses of the 4th toe
HP:0100189Stippling of the epiphysis of the middle phalanx of the 4th toe
HP:0100095Abnormality of the epiphysis of the middle phalanx of the 4th toe
http://purl.obolibrary.org/obo/PR_000001809CD59-like glycoprotein
http://purl.obolibrary.org/obo/UBERON_0002193hemolymphoid system
http://purl.obolibrary.org/obo/UBERON_0002194capsule of lymph node
HP:0004430Severe combined immunodeficiency
http://purl.obolibrary.org/obo/UBERON_0002195trabecula of lymph node
http://purl.obolibrary.org/obo/UBERON_0002196adenohypophysis
http://purl.obolibrary.org/obo/UBERON_0002198neurohypophysis
http://purl.obolibrary.org/obo/UBERON_0002199integument
HP:0004438Hyperostosis frontalis interna
HP:0004432Agammaglobulinemia
http://purl.obolibrary.org/obo/UBERON_0002190subcutaneous adipose tissue
HP:0004433Secretory IgA deficiency
HP:0004434C8 deficiency
http://purl.obolibrary.org/obo/UBERON_0002191subiculum
HP:0004442Sagittal craniosynostosis
HP:0004444Spherocytosis
HP:0004445Elliptocytosis
HP:0004446Stomatocytosis
HP:0004450Preauricular skin furrow
HP:0004451Postauricular skin tag
HP:0004453Overfolding of the superior helices
HP:0000396Overfolded helix
HP:0008544Abnormally folded helix
HP:0004458Dilatated internal auditory canal
HP:0004459Exostosis of the external auditory canal
HP:0004461Congenital earlobe sinuses
HP:0004463Absent brainstem auditory responses
HP:0004464Postauricular pit
HP:0004469Chronic bronchitis
HP:0004466Prolonged brainstem auditory evoked potentials
HP:0006958Abnormal auditory evoked potentials
HP:0004467Preauricular pit
HP:0004468Anomalous tracheal cartilage
http://purl.obolibrary.org/obo/GO_0043392negative regulation of DNA binding
http://purl.obolibrary.org/obo/UBERON_0002150superior cerebellar peduncle
http://purl.obolibrary.org/obo/UBERON_0002152middle cerebellar peduncle
http://purl.obolibrary.org/obo/UBERON_0007416cerebellar peduncle
http://purl.obolibrary.org/obo/UBERON_0007417peduncle of neuraxis
http://purl.obolibrary.org/obo/UBERON_0019292white matter of pons
http://purl.obolibrary.org/obo/UBERON_0019291white matter of metencephalon
http://purl.obolibrary.org/obo/UBERON_0019258white matter of hindbrain
http://purl.obolibrary.org/obo/UBERON_0014891brainstem white matter
http://purl.obolibrary.org/obo/GO_0043388positive regulation of DNA binding
http://purl.obolibrary.org/obo/GO_0043384pre-T cell receptor complex
HP:0004407Bony paranasal bossing
HP:0012812Fullness of paranasal tissue
http://purl.obolibrary.org/obo/UBERON_0002168left lung
http://purl.obolibrary.org/obo/UBERON_0002166endocardium of atrium
http://purl.obolibrary.org/obo/UBERON_0002167right lung
HP:0004403Proximal esophageal atresia
HP:0004405Prominent nipples
HP:0004406Spontaneous, recurrent epistaxis
HP:0000421Epistaxis
HP:0004401Meconium ileus
HP:0004419Recurrent thrombophlebitis
HP:0004418Thrombophlebitis
HP:0004415Pulmonary artery stenosis
HP:0004416Precocious atherosclerosis
HP:0004417Intermittent claudication
http://purl.obolibrary.org/obo/GO_0070962positive regulation of neutrophil mediated killing of bacterium
http://purl.obolibrary.org/obo/GO_0070961positive regulation of neutrophil mediated killing of symbiont cell
http://purl.obolibrary.org/obo/GO_0070960positive regulation of neutrophil mediated cytotoxicity
http://purl.obolibrary.org/obo/GO_0001912positive regulation of leukocyte mediated cytotoxicity
http://purl.obolibrary.org/obo/GO_1900426positive regulation of defense response to bacterium
HP:0004411Deviated nasal septum
http://purl.obolibrary.org/obo/GO_0043368positive T cell selection
http://purl.obolibrary.org/obo/GO_0045058T cell selection
HP:0004420Arterial thrombosis
HP:0004425Flat forehead
HP:0004428Elfin facies
HP:0004422Biparietal narrowing
HP:0004423Cranium bifidum occultum
http://purl.obolibrary.org/obo/UBERON_0002180ventral funiculus of spinal cord
http://purl.obolibrary.org/obo/GO_0070977bone maturation
http://purl.obolibrary.org/obo/UBERON_0004779respiratory system lamina propria
http://purl.obolibrary.org/obo/UBERON_0004778larynx submucosa
HP:0100210Small epiphysis of the distal phalanx of the 5th toe
http://purl.obolibrary.org/obo/UBERON_0002114duodenum
HP:0100212Triangular epiphysis of the distal phalanx of the 5th toe
http://purl.obolibrary.org/obo/UBERON_0002115jejunum
HP:0100211Stippling of the epiphysis of the distal phalanx of the 5th toe
http://purl.obolibrary.org/obo/UBERON_0002116ileum
HP:0100214Bracket epiphysis of the middle phalanx of the 5th toe
HP:0100213Absent epiphysis of the middle phalanx of the 5th toe
http://purl.obolibrary.org/obo/UBERON_0002118right ovary
HP:0100216Enlarged epiphysis of the middle phalanx of the 5th toe
http://purl.obolibrary.org/obo/UBERON_0002119left ovary
http://purl.obolibrary.org/obo/UBERON_0000992ovary
HP:0100215Cone-shaped epiphysis of the middle phalanx of the 5th toe
http://purl.obolibrary.org/obo/CHEBI_23354coenzyme
HP:0100218Irregular epiphysis of the middle phalanx of the 5th toe
HP:0100217Fragmentation of the epiphysis of the middle phalanx of the 5th toe
HP:0100219Ivory epiphysis of the middle phalanx of the 5th toe
http://purl.obolibrary.org/obo/UBERON_0002110gall bladder
http://purl.obolibrary.org/obo/UBERON_0002111artery smooth muscle tissue
http://purl.obolibrary.org/obo/UBERON_0002112smooth muscle of esophagus
http://purl.obolibrary.org/obo/UBERON_0004774inferior eyelid tarsus
http://purl.obolibrary.org/obo/UBERON_0004773superior eyelid tarsus
http://purl.obolibrary.org/obo/UBERON_0004772eyelid tarsus
http://purl.obolibrary.org/obo/UBERON_0004771posterior nasal aperture
http://purl.obolibrary.org/obo/UBERON_0036253orifice of skull
http://purl.obolibrary.org/obo/UBERON_0010425internal naris
http://purl.obolibrary.org/obo/UBERON_0004770articular system
http://purl.obolibrary.org/obo/UBERON_0004789larynx mucous gland
http://purl.obolibrary.org/obo/UBERON_0002124medulla of thymus
http://purl.obolibrary.org/obo/UBERON_0002125thymus lobule
HP:0100201Triangular epiphysis of the proximal phalanx of the 4th toe
HP:0100076Triangular epiphyses of the 4th toe
HP:0100200Stippling of the epiphysis of the proximal phalanx of the 4th toe
HP:0100075Stippling of the epiphyses of the 4th toe
HP:0100096Abnormality of the epiphysis of the proximal phalanx of the 4th toe
HP:0010335Abnormality of the epiphyses of the 4th toe
HP:0100203Bracket epiphysis of the distal phalanx of the 5th toe
http://purl.obolibrary.org/obo/UBERON_0002128superior olivary complex
HP:0100202Absent epiphysis of the distal phalanx of the 5th toe
http://purl.obolibrary.org/obo/UBERON_0002129cerebellar cortex
HP:0100205Enlarged epiphysis of the distal phalanx of the 5th toe
HP:0100204Cone-shaped epiphysis of the distal phalanx of the 5th toe
HP:0100207Irregular epiphysis of the distal phalanx of the 5th toe
HP:0100206Fragmentation of the epiphysis of the distal phalanx of the 5th toe
HP:0100209Pseudoepiphysis of the distal phalanx of the 5th toe
HP:0100208Ivory epiphysis of the distal phalanx of the 5th toe
HP:0100097Abnormality of the epiphysis of the distal phalanx of the 5th toe
http://purl.obolibrary.org/obo/UBERON_0002120pronephros
http://purl.obolibrary.org/obo/UBERON_0002122capsule of thymus
http://purl.obolibrary.org/obo/UBERON_0002123cortex of thymus
http://purl.obolibrary.org/obo/UBERON_0004784heart ventricle wall
http://purl.obolibrary.org/obo/UBERON_0004783gall bladder serosa
http://purl.obolibrary.org/obo/UBERON_0004781gall bladder lamina propria
http://purl.obolibrary.org/obo/CHEBI_62944sialic acid anion
http://purl.obolibrary.org/obo/UBERON_0002135mitral valve
http://purl.obolibrary.org/obo/UBERON_0002137aortic valve
http://purl.obolibrary.org/obo/CHEBI_50967non-covalently-bound molecular entity
http://purl.obolibrary.org/obo/UBERON_0002130cerebellar nuclear complex
http://purl.obolibrary.org/obo/UBERON_0019263gray matter of hindbrain
http://purl.obolibrary.org/obo/UBERON_0002132dentate nucleus
http://purl.obolibrary.org/obo/UBERON_0002134tricuspid valve
http://purl.obolibrary.org/obo/UBERON_0002133atrioventricular valve
http://purl.obolibrary.org/obo/UBERON_0005208right atrium valve
http://purl.obolibrary.org/obo/UBERON_0004796prostate gland secretion
http://purl.obolibrary.org/obo/UBERON_0004794esophagus secretion
http://purl.obolibrary.org/obo/UBERON_0004793secretion of exocrine pancreas
http://purl.obolibrary.org/obo/UBERON_0004792secretion of endocrine pancreas
http://purl.obolibrary.org/obo/UBERON_0004795pancreas secretion
http://purl.obolibrary.org/obo/UBERON_0004791thymus trabecula
http://purl.obolibrary.org/obo/UBERON_0004790skin mucous gland
http://purl.obolibrary.org/obo/UBERON_0002146pulmonary valve
http://purl.obolibrary.org/obo/UBERON_0005623semi-lunar valve
http://purl.obolibrary.org/obo/UBERON_0000946cardial valve
http://purl.obolibrary.org/obo/UBERON_0002148locus ceruleus
http://purl.obolibrary.org/obo/UBERON_0002149superior salivatory nucleus
http://purl.obolibrary.org/obo/CHEBI_23366compatible osmolytes
http://purl.obolibrary.org/obo/CHEBI_25728osmolyte
http://purl.obolibrary.org/obo/CHEBI_3534217alpha-hydroxy steroid
http://purl.obolibrary.org/obo/CHEBI_3534317beta-hydroxy steroid
http://purl.obolibrary.org/obo/CHEBI_603083,3',5-triiodo-L-thyroninate
http://purl.obolibrary.org/obo/UBERON_0004737metanephric collecting duct
http://purl.obolibrary.org/obo/UBERON_0004736metanephric glomerulus
http://purl.obolibrary.org/obo/UBERON_0004734gastrula
http://purl.obolibrary.org/obo/UBERON_0004739pronephric glomerulus
http://purl.obolibrary.org/obo/UBERON_0000074renal glomerulus
HP:0004472Mandibular hyperostosis
HP:0004474Persistent open anterior fontanelle
HP:0004470Atretic occipital cephalocele
http://purl.obolibrary.org/obo/CHEBI_60311thyroid hormone
http://purl.obolibrary.org/obo/CHEBI_59326prostaglandin carboxylic acid anion
http://purl.obolibrary.org/obo/CHEBI_62943prostanoid anion
http://purl.obolibrary.org/obo/CHEBI_62937icosanoid anion
HP:0004478Ethmoidal encephalocele
HP:0004484Craniofacial asymmetry
HP:0004485Cessation of head growth
HP:0004481Progressive macrocephaly
HP:0004482Relative macrocephaly
http://purl.obolibrary.org/obo/CHEBI_629814-hydroxy-L-prolinate
http://purl.obolibrary.org/obo/CHEBI_629784-hydroxyprolinate
HP:0004487Acrobrachycephaly
HP:0000248Brachycephaly
HP:0004488Macrocephaly at birth
http://purl.obolibrary.org/obo/CHEBI_35391aspartate(1-)
http://purl.obolibrary.org/obo/UBERON_0004753scapulocoracoid
HP:0004495Thin anteverted nares
HP:0000463Anteverted nares
HP:0004496Posterior choanal atresia
HP:0004490Calvarial hyperostosis
HP:0004491Large posterior fontanelle
HP:0004492Widely patent fontanelles and sutures
HP:0000239Large fontanelles
HP:0010537Wide cranial sutures
HP:0004499Chronic rhinitis due to narrow nasal airway
http://purl.obolibrary.org/obo/UBERON_0004767vomerine tooth
http://purl.obolibrary.org/obo/UBERON_0012070palatal tooth
http://purl.obolibrary.org/obo/UBERON_0002102forelimb
http://purl.obolibrary.org/obo/UBERON_0002103hindlimb
http://purl.obolibrary.org/obo/UBERON_0002104visual system
http://purl.obolibrary.org/obo/UBERON_0002105vestibulo-auditory system
http://purl.obolibrary.org/obo/UBERON_0002106spleen
http://purl.obolibrary.org/obo/UBERON_0017672abdominal viscera
http://purl.obolibrary.org/obo/UBERON_0002107liver
http://purl.obolibrary.org/obo/UBERON_0002108small intestine
http://purl.obolibrary.org/obo/UBERON_0002109pair of nares
http://purl.obolibrary.org/obo/UBERON_0002100trunk
http://purl.obolibrary.org/obo/UBERON_0002101limb
http://purl.obolibrary.org/obo/UBERON_0004761cartilaginous neurocranium
http://purl.obolibrary.org/obo/UBERON_0004760gland of anal canal
http://www.informatics.jax.org/marker/MGI:98384Spn (mouse)
HP:0100290Abnormality of peripheral somatosensory evoked potentials
HP:0100292Amyloidosis of peripheral nerves
HP:0100291Abnormality of central somatosensory evoked potentials
HP:0100293Muscle fiber hypertrophy
HP:0100296Perifascicular muscle fiber atrophy
HP:0100298Motheaten muscle fibers
HP:0100297Increased endomysial connective tissue
http://purl.obolibrary.org/obo/GO_0045923positive regulation of fatty acid metabolic process
http://purl.obolibrary.org/obo/GO_0045922negative regulation of fatty acid metabolic process
http://purl.obolibrary.org/obo/GO_0031305integral component of mitochondrial inner membrane
HP:0100280Crohn's disease
HP:0100283EMG: continuous motor unit activity at rest
HP:0100282Acute colitis
HP:0100284EMG: myotonic discharges
HP:0100287EMG: slow motor conduction
HP:0100288EMG: myokymic discharges
HP:0002411Myokymia
http://purl.obolibrary.org/obo/UBERON_0004709pelvic appendage
http://purl.obolibrary.org/obo/UBERON_0004707pharyngula stage
http://purl.obolibrary.org/obo/UBERON_0000105life cycle stage
http://purl.obolibrary.org/obo/UBERON_0000000processual entity
http://purl.obolibrary.org/obo/GO_0031304intrinsic component of mitochondrial inner membrane
http://purl.obolibrary.org/obo/UBERON_0004706bulbus cordis
http://purl.obolibrary.org/obo/GO_0045916negative regulation of complement activation
http://purl.obolibrary.org/obo/GO_0045917positive regulation of complement activation
http://purl.obolibrary.org/obo/GO_0030449regulation of complement activation
http://purl.obolibrary.org/obo/GO_0045910negative regulation of DNA recombination
http://purl.obolibrary.org/obo/GO_0045911positive regulation of DNA recombination
http://purl.obolibrary.org/obo/UBERON_0004716conceptus
http://purl.obolibrary.org/obo/UBERON_0004715annulus fibrosus disci intervertebralis
http://purl.obolibrary.org/obo/UBERON_0004714septum pellucidum
HP:0100270Abnormality of dorsoventral patterning of the limbs
http://purl.obolibrary.org/obo/UBERON_0004713corpus cavernosum penis
HP:0100272Branchial sinus
HP:0100271Hyponasal speech
HP:0100274Gustatory lacrimation
http://purl.obolibrary.org/obo/UBERON_0004710pectoral appendage
http://purl.obolibrary.org/obo/UBERON_0004708paired limb/fin
http://purl.obolibrary.org/obo/UBERON_0000026appendage
HP:0100275Diffuse cerebellar atrophy
HP:0100277Periauricular skin pits
HP:0100279Ulcerative colitis
HP:0100281Chronic colitis
HP:0002583Colitis
http://purl.obolibrary.org/obo/CHEBI_13941carbamate
http://purl.obolibrary.org/obo/GO_0045901positive regulation of translational elongation
http://purl.obolibrary.org/obo/GO_0045727positive regulation of translation
http://purl.obolibrary.org/obo/GO_0045900negative regulation of translational elongation
http://purl.obolibrary.org/obo/UBERON_0004727cochlear nerve
http://purl.obolibrary.org/obo/UBERON_0004724medial palpebral ligament
http://purl.obolibrary.org/obo/UBERON_0004720cerebellar vermis
http://purl.obolibrary.org/obo/UBERON_0002749regional part of cerebellar cortex
HP:0100268Upper lip pit
HP:0100269Paramedian lip pit
HP:0100267Lip pit
HP:0100276Skin pit
HP:0100250Meningeal calcification
HP:0100252Diaphyseal dysplasia
HP:0100251Multiple central nervous system lipomas
HP:0100254Stenosis of the medullary cavity of the long bones
HP:0100253Abnormality of the medullary cavity of the long bones
http://purl.obolibrary.org/obo/GO_0031330negative regulation of cellular catabolic process
http://purl.obolibrary.org/obo/CHEBI_50903carcinogenic agent
http://purl.obolibrary.org/obo/CHEBI_50904allergen
http://purl.obolibrary.org/obo/PR_000047517PR:000047517 located_in GO:0005788
http://purl.obolibrary.org/obo/PR_P01275PR:P01275 located_in GO:0005788
http://purl.obolibrary.org/obo/PR_000019979glucagon, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000007891glucagon
HP:0100241Ectopic respiratory mucosa
HP:0100243Leiomyosarcoma
HP:0100245Desmoid tumors
HP:0100244Fibrosarcoma
HP:0100247Recurrent singultus
HP:0100249Calcification of muscles
HP:0100248Hemiballismus
http://purl.obolibrary.org/obo/CHEBI_50910neurotoxin
http://purl.obolibrary.org/obo/CHEBI_64909poison
http://purl.obolibrary.org/obo/CHEBI_52209aetiopathogenetic role
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1833CEBPA (human)
HP:0100230Ivory epiphysis of the proximal phalanx of the 5th toe
HP:0100083Ivory epiphyses of the 5th toe
HP:0010168Ivory epiphyses of the toes
HP:0100232Small epiphysis of the proximal phalanx of the 5th toe
HP:0100231Pseudoepiphysis of the proximal phalanx of the 5th toe
HP:0100234Triangular epiphysis of the proximal phalanx of the 5th toe
HP:0100233Stippling of the epiphysis of the proximal phalanx of the 5th toe
http://purl.obolibrary.org/obo/PR_000047533PR:000047533 located_in GO:0005576
http://purl.obolibrary.org/obo/PR_P27352cobalamin binding intrinsic factor (human)
http://purl.obolibrary.org/obo/PR_000007975cobalamin binding intrinsic factor
HP:0100221Small epiphysis of the middle phalanx of the 5th toe
HP:0100085Small epiphyses of the 5th toe
HP:0010170Small epiphyses of the toes
HP:0100220Pseudoepiphysis of the middle phalanx of the 5th toe
HP:0100084Pseudoepiphyses of the 5th toe
HP:0010169Pseudoepiphyses of the toes
HP:0100223Triangular epiphysis of the middle phalanx of the 5th toe
HP:0100087Triangular epiphyses of the 5th toe
HP:0010172Triangular epiphyses of the toes
HP:0100222Stippling of the epiphysis of the middle phalanx of the 5th toe
HP:0100098Abnormality of the epiphysis of the middle phalanx of the 5th toe
HP:0100086Stippling of the epiphyses of the 5th toe
HP:0010171Epiphyseal stippling of toe phalanges
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1820CEACAM8 (human)
http://purl.obolibrary.org/obo/CHEBI_25985phenylalanine derivative
HP:0100225Bracket epiphysis of the proximal phalanx of the 5th toe
HP:0100078Bracket epiphyses of the 5th toe
HP:0010163Bracket epiphyses of the toes
HP:0100224Absent epiphysis of the proximal phalanx of the 5th toe
HP:0100077Absent epiphyses of the 5th toe
HP:0010162Absent epiphyses of the toes
HP:0100227Enlarged epiphysis of the proximal phalanx of the 5th toe
HP:0100080Enlarged epiphyses of the 5th toe
HP:0010165Enlarged epiphyses of the toes
HP:0100226Cone-shaped epiphysis of the proximal phalanx of the 5th toe
HP:0100079Cone-shaped epiphyses of the 5th toe
HP:0010164Cone-shaped epiphyses of the toes
HP:0100229Irregular epiphysis of the proximal phalanx of the 5th toe
HP:0100082Irregular epiphyses of the 5th toe
HP:0010167Irregular epiphyses of the toes
HP:0100228Fragmentation of the epiphysis of the proximal phalanx of the 5th toe
HP:0100099Abnormality of the epiphysis of the proximal phalanx of the 5th toe
HP:0100081Fragmentation of the epiphyses of the 5th toe
HP:0010166Fragmentation of the epiphyses of the toes
HP:0010341Abnormality of the epiphyses of the 5th toe
HP:0010160Abnormality of the epiphyses of the toes
http://purl.obolibrary.org/obo/GO_0070944neutrophil-mediated killing of bacterium
http://purl.obolibrary.org/obo/GO_0070943neutrophil-mediated killing of symbiont cell
http://purl.obolibrary.org/obo/GO_0070942neutrophil mediated cytotoxicity
http://purl.obolibrary.org/obo/GO_0001909leukocyte mediated cytotoxicity
http://purl.obolibrary.org/obo/GO_0070956negative regulation of neutrophil mediated killing of bacterium
http://purl.obolibrary.org/obo/GO_0070950regulation of neutrophil mediated killing of bacterium
http://purl.obolibrary.org/obo/GO_1900425negative regulation of defense response to bacterium
http://purl.obolibrary.org/obo/GO_1900424regulation of defense response to bacterium
http://purl.obolibrary.org/obo/GO_0070955negative regulation of neutrophil mediated killing of symbiont cell
http://purl.obolibrary.org/obo/GO_0070954negative regulation of neutrophil mediated cytotoxicity
http://purl.obolibrary.org/obo/GO_0001911negative regulation of leukocyte mediated cytotoxicity
http://purl.obolibrary.org/obo/GO_0070949regulation of neutrophil mediated killing of symbiont cell
http://purl.obolibrary.org/obo/GO_0070948regulation of neutrophil mediated cytotoxicity
http://purl.obolibrary.org/obo/GO_0001910regulation of leukocyte mediated cytotoxicity
http://purl.obolibrary.org/obo/GO_0045992negative regulation of embryonic development
http://purl.obolibrary.org/obo/GO_0045995regulation of embryonic development
http://purl.obolibrary.org/obo/CHEBI_131621C19-steroid
http://purl.obolibrary.org/obo/GO_0045983positive regulation of purine nucleobase metabolic process
http://purl.obolibrary.org/obo/GO_0045982negative regulation of purine nucleobase metabolic process
http://purl.obolibrary.org/obo/GO_0006141regulation of purine nucleobase metabolic process
http://purl.obolibrary.org/obo/GO_0045985positive regulation of pyrimidine nucleobase metabolic process
http://purl.obolibrary.org/obo/GO_0021915neural tube development
http://purl.obolibrary.org/obo/GO_0035295tube development
http://purl.obolibrary.org/obo/GO_0060429epithelium development
http://purl.obolibrary.org/obo/GO_0045984negative regulation of pyrimidine nucleobase metabolic process
http://purl.obolibrary.org/obo/GO_0006142regulation of pyrimidine nucleobase metabolic process
http://purl.obolibrary.org/obo/GO_0045989positive regulation of striated muscle contraction
http://purl.obolibrary.org/obo/GO_0045988negative regulation of striated muscle contraction
http://purl.obolibrary.org/obo/CHEBI_131604Mycoplasma genitalium metabolite
http://purl.obolibrary.org/obo/CHEBI_76969bacterial metabolite
http://purl.obolibrary.org/obo/CHEBI_35291all-trans-retinoate
http://purl.obolibrary.org/obo/CHEBI_15036retinoate
http://purl.obolibrary.org/obo/UBERON_0002072hypodermis
http://purl.obolibrary.org/obo/UBERON_0002073hair follicle
http://purl.obolibrary.org/obo/UBERON_0036150skin appendage follicle
http://purl.obolibrary.org/obo/UBERON_0002074hair shaft
HP:0004552Scarring alopecia of scalp
HP:0002293Alopecia of scalp
http://purl.obolibrary.org/obo/UBERON_0002076cuticle of hair
http://purl.obolibrary.org/obo/UBERON_0000119cell layer
http://purl.obolibrary.org/obo/UBERON_0002077cortex of hair
http://purl.obolibrary.org/obo/UBERON_0002078right cardiac atrium
http://purl.obolibrary.org/obo/UBERON_0002079left cardiac atrium
HP:0004557Anterior vertebral fusion
HP:0004558Cervical platyspondyly
HP:0004554Generalized hypertrichosis
http://purl.obolibrary.org/obo/UBERON_0002084heart left ventricle
http://purl.obolibrary.org/obo/UBERON_0002085interatrial septum
HP:0004562Beaking of vertebral bodies T12-L3
HP:0004563Increased spinal bone density
HP:0004330Increased skull ossification
http://purl.obolibrary.org/obo/UBERON_0002089thoracodorsal vein
HP:0004565Severe platyspondyly
http://purl.obolibrary.org/obo/UBERON_0002080heart right ventricle
http://purl.obolibrary.org/obo/UBERON_0002081cardiac atrium
HP:0004566Pear-shaped vertebrae
http://purl.obolibrary.org/obo/UBERON_0002082cardiac ventricle
http://www.informatics.jax.org/marker/MGI:106201Tmed1 (mouse)
HP:0004571Widening of cervical spinal canal
http://purl.obolibrary.org/obo/UBERON_0002094interventricular septum
HP:0004573Anterior wedging of T11
http://purl.obolibrary.org/obo/UBERON_0002097skin of body
HP:0004575Fusion of midcervical facet joints
http://purl.obolibrary.org/obo/UBERON_0002090postcranial axial skeleton
HP:0004576Sclerotic vertebral endplates
http://purl.obolibrary.org/obo/UBERON_0002091appendicular skeleton
http://purl.obolibrary.org/obo/UBERON_0002093spinal dura mater
HP:0004582Irregularity of vertebral bodies
HP:0004580Anterior scalloping of vertebral bodies
HP:0004581Increased anterior vertebral height
HP:0004570Increased vertebral height
HP:0004589Dysplasia of second lumbar vertebra
http://purl.obolibrary.org/obo/UBERON_0004699outflow tract endothelium
http://purl.obolibrary.org/obo/UBERON_0004698vena cava endothelium
http://purl.obolibrary.org/obo/UBERON_0002037cerebellum
http://purl.obolibrary.org/obo/UBERON_0002038substantia nigra
http://purl.obolibrary.org/obo/UBERON_0009661midbrain nucleus
http://purl.obolibrary.org/obo/UBERON_0002032areola
http://purl.obolibrary.org/obo/UBERON_0002033arrector muscle of hair
http://purl.obolibrary.org/obo/UBERON_0004696venous system smooth muscle
HP:0004510Pancreatic islet-cell hyperplasia
HP:0012094Abnormal pancreas size
http://purl.obolibrary.org/obo/UBERON_0004692external naris epithelium
HP:0004528Generalized hypotrichosis
HP:0004529Atrophic, patchy alopecia
HP:0002232Patchy alopecia
http://purl.obolibrary.org/obo/UBERON_0002047pontine raphe nucleus
http://purl.obolibrary.org/obo/UBERON_0002048lung
http://purl.obolibrary.org/obo/UBERON_0000171respiration organ
http://purl.obolibrary.org/obo/UBERON_0002040bronchial artery
http://purl.obolibrary.org/obo/UBERON_0002046thyroid gland
HP:0004524Temporal hypotrichosis
HP:0004527Large clumps of pigment irregularly distributed along hair shaft
HP:0002220Melanin pigment aggregation in hair shafts
http://purl.obolibrary.org/obo/GO_0043255regulation of carbohydrate biosynthetic process
HP:0004523Long eyebrows
http://purl.obolibrary.org/obo/UBERON_0002058main ciliary ganglion
http://purl.obolibrary.org/obo/UBERON_0002059submandibular ganglion
http://purl.obolibrary.org/obo/UBERON_0002052adrenal gland capsule
http://purl.obolibrary.org/obo/UBERON_0002056inferior suprarenal artery
http://purl.obolibrary.org/obo/UBERON_0005624suprarenal artery
HP:0004535Anterior cervical hypertrichosis
HP:0004532Sacral hypertrichosis
http://purl.obolibrary.org/obo/GO_0070859positive regulation of bile acid biosynthetic process
http://purl.obolibrary.org/obo/GO_0070858negative regulation of bile acid biosynthetic process
http://purl.obolibrary.org/obo/UBERON_0002069stratum granulosum of epidermis
http://purl.obolibrary.org/obo/UBERON_0002061truncus arteriosus
http://purl.obolibrary.org/obo/UBERON_0002062endocardial cushion
http://purl.obolibrary.org/obo/UBERON_0009751cardiac mesenchyme
HP:0004540Congenital, generalized hypertrichosis
http://purl.obolibrary.org/obo/UBERON_0002063sinus venosus
http://purl.obolibrary.org/obo/UBERON_0002067dermis
http://purl.obolibrary.org/obo/UBERON_0002068urachus
http://purl.obolibrary.org/obo/GO_0070857regulation of bile acid biosynthetic process
http://purl.obolibrary.org/obo/UBERON_0002060femoral artery
http://purl.obolibrary.org/obo/CHEBI_62803fuel additive
http://purl.obolibrary.org/obo/CHEBI_25899pentitol
http://purl.obolibrary.org/obo/UBERON_0004657mandible condylar process
HP:0100333Unilateral cleft lip
HP:0100334Unilateral cleft palate
HP:0100337Bilateral cleft palate
HP:0100336Bilateral cleft lip
HP:0100335Non-midline cleft lip
HP:0100338Non-midline cleft palate
http://purl.obolibrary.org/obo/CHEBI_35219plant growth retardant
http://purl.obolibrary.org/obo/UBERON_0004652humerus diaphysis
http://purl.obolibrary.org/obo/UBERON_0004650tongue keratinized epithelium
http://purl.obolibrary.org/obo/UBERON_0012329keratinized stratified squamous epithelium
http://purl.obolibrary.org/obo/CHEBI_23229chromanol
http://purl.obolibrary.org/obo/CHEBI_23230chromanes
http://purl.obolibrary.org/obo/UBERON_0004668fourth ventricle aperture
http://purl.obolibrary.org/obo/UBERON_0004666interventricular septum membranous part
http://purl.obolibrary.org/obo/UBERON_0004665muscular coat of seminal vesicle
HP:0100320Rosenthal fibers
http://purl.obolibrary.org/obo/UBERON_0002004trunk of sciatic nerve
HP:0100322Aplasia of the pyramidal tract
http://purl.obolibrary.org/obo/UBERON_0002005enteric nervous system
http://purl.obolibrary.org/obo/UBERON_0002006cortex of lymph node
HP:0100324Scleroderma
http://purl.obolibrary.org/obo/UBERON_0002007medulla of lymph node
http://purl.obolibrary.org/obo/PR_000047430PR:000047430 located_in GO:0005886
http://purl.obolibrary.org/obo/GO_0031268pseudopodium organization
http://purl.obolibrary.org/obo/UBERON_0002008cardiac nerve plexus
HP:0100328Carpometacarpal synostosis
HP:0100327Cow milk allergy
HP:0100329Tarsometatarsal synostosis
http://purl.obolibrary.org/obo/UBERON_0002001joint of rib
http://purl.obolibrary.org/obo/UBERON_0004664aorta tunica adventitia
http://purl.obolibrary.org/obo/UBERON_0004663aorta wall
http://purl.obolibrary.org/obo/UBERON_0004660mandible coronoid process
http://purl.obolibrary.org/obo/UBERON_0004679dentate gyrus molecular layer
http://purl.obolibrary.org/obo/UBERON_0002304layer of dentate gyrus
HP:0100311Cerebral ventricular adhesions
http://purl.obolibrary.org/obo/UBERON_0002016pulmonary vein
HP:0100310Epidural hemorrhage
HP:0100313Cerebral granulomatosis
HP:0100312Cerebral germinoma
HP:0100620Germinoma
http://purl.obolibrary.org/obo/UBERON_0002019accessory XI nerve
HP:0100315Lewy bodies
http://purl.obolibrary.org/obo/CHEBI_50846immunomodulator
HP:0100317Argyrophilic inclusion bodies
HP:0100316Hirano bodies
HP:0100319Cerebral hyaline bodies
HP:0100318Lafora bodies
http://purl.obolibrary.org/obo/UBERON_0002011thoracodorsal artery
http://purl.obolibrary.org/obo/UBERON_0002012pulmonary artery
http://purl.obolibrary.org/obo/CHEBI_35237cysteine zwitterion
http://purl.obolibrary.org/obo/UBERON_0004688costo-cervical trunk
http://purl.obolibrary.org/obo/UBERON_0002025stratum basale of epidermis
http://purl.obolibrary.org/obo/UBERON_0002026stratum spinosum of epidermis
HP:0100300Desmin bodies
http://purl.obolibrary.org/obo/UBERON_0002027stratum corneum of epidermis
http://purl.obolibrary.org/obo/UBERON_0003055periderm
http://purl.obolibrary.org/obo/CHEBI_23240chromophore
http://purl.obolibrary.org/obo/CHEBI_52215photochemical role
http://purl.obolibrary.org/obo/UBERON_0002028hindbrain
HP:0100302Muscle fiber tubuloreticular inclusions
http://purl.obolibrary.org/obo/UBERON_0002029epithelium of gall bladder
HP:0100301Muscle fiber tubular inclusions
HP:0100304Muscle fiber intranuclear inclusion bodies
http://purl.obolibrary.org/obo/CHEBI_50857anti-allergic agent
HP:0100306Muscle fiber hyaline bodies
HP:0100305Ring fibers
HP:0100308Cerebral cortical hemiatrophy
HP:0100307Cerebellar hemisphere hypoplasia
HP:0100309Subdural hemorrhage
http://purl.obolibrary.org/obo/CHEBI_35223catalyst
http://purl.obolibrary.org/obo/UBERON_0004684raphe nuclei
http://purl.obolibrary.org/obo/UBERON_0004681vestibular system
http://purl.obolibrary.org/obo/CHEBI_35221antimetabolite
http://purl.obolibrary.org/obo/UBERON_0004617lumbar vertebra 1
http://purl.obolibrary.org/obo/UBERON_0004615mammalian cervical vertebra 6
http://purl.obolibrary.org/obo/UBERON_0004614mammalian cervical vertebra 5
http://purl.obolibrary.org/obo/UBERON_0004613mammalian cervical vertebra 4
http://purl.obolibrary.org/obo/UBERON_0004612mammalian cervical vertebra 3
http://purl.obolibrary.org/obo/UBERON_0002413cervical vertebra
http://purl.obolibrary.org/obo/UBERON_0004611rib 12
http://purl.obolibrary.org/obo/UBERON_0004619lumbar vertebra 3
http://purl.obolibrary.org/obo/UBERON_0004618lumbar vertebra 2
HP:0004594Hump-shaped mound of bone in central and posterior portions of vertebral endplate
HP:0004590Hypoplastic sacrum
HP:0008517Aplasia/Hypoplasia of the sacrum
HP:0004591Disc-like vertebral bodies
HP:0004592Thoracic platyspondyly
http://purl.obolibrary.org/obo/CHEBI_59203straight-chain fatty acid anion
HP:0004598Supernumerary vertebral ossification centers
http://purl.obolibrary.org/obo/UBERON_0004622sacral vertebra 1
http://purl.obolibrary.org/obo/UBERON_0004621lumbar vertebra 5
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1764CDH5 (human)
http://purl.obolibrary.org/obo/UBERON_0004620lumbar vertebra 4
http://purl.obolibrary.org/obo/UBERON_0002414lumbar vertebra
http://purl.obolibrary.org/obo/CHEBI_35247D-serine zwitterion
http://www.informatics.jax.org/marker/MGI:98282Spi1 (mouse)
http://purl.obolibrary.org/obo/CHEBI_35243serine zwitterion
http://purl.obolibrary.org/obo/UBERON_0004637otic capsule
http://purl.obolibrary.org/obo/CHEBI_62868hepatoprotective agent
http://www.informatics.jax.org/marker/MGI:98279Sell (mouse)
http://purl.obolibrary.org/obo/UBERON_0016611auditory hillocks, pharyngeal arch 1 derived
http://purl.obolibrary.org/obo/UBERON_0016612auditory hillocks, pharyngeal arch 2 derived
http://purl.obolibrary.org/obo/CHEBI_59226N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucose
http://purl.obolibrary.org/obo/CHEBI_59266amino trisaccharide
http://purl.obolibrary.org/obo/UBERON_0004649sphenoid bone pterygoid process
http://purl.obolibrary.org/obo/UBERON_0004647liver lobule
http://purl.obolibrary.org/obo/UBERON_0004646infraorbital artery
http://purl.obolibrary.org/obo/CHEBI_59238cyclic fatty acid
http://purl.obolibrary.org/obo/UBERON_0004641spleen capsule
http://purl.obolibrary.org/obo/PR_P07766T-cell surface glycoprotein CD3 epsilon chain (human)
http://purl.obolibrary.org/obo/CHEBI_25805oxygen atom
http://purl.obolibrary.org/obo/CHEBI_13850apoprotein
HP:0100391Short distal phalanx of the 5th toe
HP:0100390Short distal phalanx of the 4th toe
HP:0100393Short middle phalanx of the 4th toe
HP:0100392Short middle phalanx of the 3rd toe
HP:0100395Short proximal phalanx of the 3rd toe
HP:0100394Short middle phalanx of the 5th toe
HP:0100397Short proximal phalanx of the 5th toe
HP:0100396Short proximal phalanx of the 4th toe
http://purl.obolibrary.org/obo/CL_0005012multi-ciliated epithelial cell
HP:0100380Aplasia of the distal phalanx of the 5th toe
HP:0100382Aplasia of the middle phalanx of the 4th toe
HP:0100381Absent middle phalanx of the 3rd toe
http://purl.obolibrary.org/obo/UBERON_0004601rib 1
HP:0100384Absent proximal phalanx of the 3rd toe
HP:0100383Aplasia of the middle phalanx of the 5th toe
HP:0100386Aplasia of the proximal phalanx of the 5th toe
HP:0100385Aplasia of the proximal phalanx of the 4th toe
HP:0100388Aplasia of the proximal phalanges of the toes
HP:0100387Aplasia of the middle phalanges of the toes
HP:0100389Short distal phalanx of the 3rd toe
http://purl.obolibrary.org/obo/CHEBI_841963-hydroxy fatty acid anion
http://purl.obolibrary.org/obo/CHEBI_37808butane
http://purl.obolibrary.org/obo/PR_P07724serum albumin (mouse)
HP:0100371Aplasia/Hypoplasia of the distal phalanx of the 5th toe
http://purl.obolibrary.org/obo/GO_0006282regulation of DNA repair
http://purl.obolibrary.org/obo/GO_2001020regulation of response to DNA damage stimulus
http://purl.obolibrary.org/obo/GO_0080135regulation of cellular response to stress
HP:0100373Aplasia/Hypoplasia of the middle phalanx of the 4th toe
HP:0100372Aplasia/Hypoplasia of the middle phalanx of the 3rd toe
HP:0100375Aplasia/hypoplasia of the proximal phalanx of the 3rd toe
HP:0100374Aplasia/Hypoplasia of the middle phalanx of the 5th toe
HP:0010194Aplasia/Hypoplasia of the middle phalanges of the toes
HP:0100377Aplasia/hypoplasia of the proximal phalanx of the 5th toe
HP:0100376Aplasia/hypoplasia of the proximal phalanx of the 4th toe
HP:0010203Aplasia/hypoplasia of proximal toe phalanx
HP:0100379Aplasia of the distal phalanx of the 4th toe
HP:0100370Aplasia/Hypoplasia of the distal phalanx of the 4th toe
HP:0100378Absent distal phalanx of the 3rd toe
http://purl.obolibrary.org/obo/CHEBI_37838carboacyl group
HP:0100362Aplasia of the phalanges of the 3rd toe
HP:0100364Aplasia of the phalanges of the 5th toe
HP:0100363Aplasia of the phalanges of the 4th toe
HP:0100366Short phalanx of the 3rd toe
HP:0100368Short phalanx of the 5th toe
HP:0010343Aplasia/Hypoplasia of the 5th toe
HP:0010383Aplasia/Hypoplasia of the phalanges of the 5th toe
HP:0100367Short phalanx of the 4th toe
HP:0010337Aplasia/Hypoplasia of the 4th toe
HP:0010371Aplasia/Hypoplasia of the phalanges of the 4th toe
HP:0100369Aplasia/Hypoplasia of the distal phalanx of the 3rd toe
HP:0010359Aplasia/Hypoplasia of the phalanges of the 3rd toe
HP:0010331Aplasia/Hypoplasia of the 3rd toe
http://purl.obolibrary.org/obo/CL_0005026hepatoblast
http://purl.obolibrary.org/obo/CL_0005022vascular lymphangioblast
http://purl.obolibrary.org/obo/CL_0005020lymphangioblast
HP:0100351Contractures of the proximal interphalangeal joint of the 5th toe
HP:0100350Contracture of the proximal interphalangeal joint of the 4th toe
HP:0100353Contracture of the distal interphalangeal joint of the 3rd toe
HP:0100352Contracture of the distal interphalangeal joint of the 2nd toe
HP:0100355Contractures of the distal interphalangeal joint of the 5th toe
HP:0100354Contracture of the distal interphalangeal joint of the 4th toe
HP:0100357Contracture of the metatarsophalangeal joint of the 3rd toe
HP:0100356Contracture of the metatarsophalangeal joint of the 2nd toe
HP:0100359Contracture of the metatarsophalangeal joint of the 5th toe
HP:0010345Flexion contracture of the 5th toe
HP:0100358Contracture of the metatarsophalangeal joint of the 4th toe
HP:0010339Flexion contracture of the 4th toe
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1709CD9 (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1706CD8A (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1707CD8B (human)
HP:0100340Fibular deviation of the 4th toe
HP:0100342Fibular deviation of the 3rd toe
HP:0100341Tibial deviation of the 4th toe
HP:0100344Fibular deviation of the 2nd toe
HP:0100343Tibial deviation of the 3rd toe
HP:0100346Fibular deviation of the 5th toe
HP:0100345Tibial deviation of the 2nd toe
HP:0100348Contracture of the proximal interphalangeal joint of the 2nd toe
HP:0010327Flexion contracture of the 2nd toe
HP:0100347Tibial deviation of the 5th toe
HP:0100349Contracture of the proximal interphalangeal joint of the 3rd toe
HP:0010333Flexion contracture of 3rd toe
http://purl.obolibrary.org/obo/GO_0043230extracellular organelle
http://purl.obolibrary.org/obo/PR_P05186alkaline phosphatase, tissue-nonspecific isozyme (human)
http://purl.obolibrary.org/obo/GO_0043209myelin sheath
http://purl.obolibrary.org/obo/PR_P327544-hydroxyphenylpyruvate dioxygenase (human)
HP:0004502Bilateral choanal atresia
http://purl.obolibrary.org/obo/GO_0045840positive regulation of mitotic nuclear division
http://purl.obolibrary.org/obo/GO_0045931positive regulation of mitotic cell cycle
http://purl.obolibrary.org/obo/GO_0045836positive regulation of meiotic nuclear division
http://purl.obolibrary.org/obo/GO_0045839negative regulation of mitotic nuclear division
http://purl.obolibrary.org/obo/GO_0045930negative regulation of mitotic cell cycle
http://purl.obolibrary.org/obo/GO_0045835negative regulation of meiotic nuclear division
http://purl.obolibrary.org/obo/GO_0040020regulation of meiotic nuclear division
http://purl.obolibrary.org/obo/GO_0045828positive regulation of isoprenoid metabolic process
http://purl.obolibrary.org/obo/GO_0045827negative regulation of isoprenoid metabolic process
http://purl.obolibrary.org/obo/GO_0045820negative regulation of glycolytic process
http://purl.obolibrary.org/obo/GO_1903579negative regulation of ATP metabolic process
http://purl.obolibrary.org/obo/GO_1900543negative regulation of purine nucleotide metabolic process
http://purl.obolibrary.org/obo/GO_0045980negative regulation of nucleotide metabolic process
http://purl.obolibrary.org/obo/GO_0042326negative regulation of phosphorylation
http://purl.obolibrary.org/obo/GO_0045822negative regulation of heart contraction
http://purl.obolibrary.org/obo/GO_1903523negative regulation of blood circulation
http://purl.obolibrary.org/obo/GO_0045821positive regulation of glycolytic process
http://purl.obolibrary.org/obo/GO_0006110regulation of glycolytic process
http://purl.obolibrary.org/obo/GO_1900544positive regulation of purine nucleotide metabolic process
http://purl.obolibrary.org/obo/GO_0045981positive regulation of nucleotide metabolic process
http://purl.obolibrary.org/obo/GO_1900542regulation of purine nucleotide metabolic process
http://purl.obolibrary.org/obo/GO_0006140regulation of nucleotide metabolic process
http://purl.obolibrary.org/obo/GO_0031331positive regulation of cellular catabolic process
http://purl.obolibrary.org/obo/GO_0042327positive regulation of phosphorylation
http://purl.obolibrary.org/obo/GO_1903580positive regulation of ATP metabolic process
http://purl.obolibrary.org/obo/GO_1903578regulation of ATP metabolic process
http://purl.obolibrary.org/obo/GO_0045823positive regulation of heart contraction
http://purl.obolibrary.org/obo/GO_1903524positive regulation of blood circulation
http://purl.obolibrary.org/obo/GO_0008016regulation of heart contraction
http://purl.obolibrary.org/obo/GO_1903522regulation of blood circulation
http://purl.obolibrary.org/obo/GO_0006206pyrimidine nucleobase metabolic process
http://purl.obolibrary.org/obo/GO_0072527pyrimidine-containing compound metabolic process
HP:0002010Narrow maxilla
HP:0004679Large tarsal bones
HP:0002019Constipation
HP:0002018Nausea
HP:0004676Prominent supraorbital arches in adult
HP:0004681Deep longitudinal plantar crease
HP:0002020Gastroesophageal reflux
HP:0004684Talipes valgus
HP:0002021Pyloric stenosis
HP:0004400Abnormality of the pylorus
HP:0004689Short fourth metatarsal
HP:0002028Chronic diarrhea
HP:0002023Anal atresia
HP:0004686Short third metatarsal
HP:0004688Irregular tarsal bones
HP:0002025Anal stenosis
HP:0002033Poor suck
HP:0004695Calcaneal epiphyseal stippling
HP:0002032Esophageal atresia
HP:0004690Thickened Achilles tendon
HP:0002039Anorexia
HP:0002038Protein avoidance
HP:0004696Talipes cavus equinovarus
HP:0002035Rectal prolapse
HP:0002037Inflammation of the large intestine
HP:0004699Osteoporotic metatarsal
HP:0002036Hiatus hernia
HP:0002041Intractable diarrhea
HP:0002044Zollinger-Ellison syndrome
HP:0002043Esophageal stricture
HP:0010450Esophageal stenosis
HP:0002040Esophageal varix
HP:0002049Proximal renal tubular acidosis
HP:0002046Heat intolerance
HP:0002048Renal cortical atrophy
HP:0012585Renal atrophy
HP:0002047Malignant hyperthermia
http://purl.obolibrary.org/obo/UBERON_0016552phlegm
http://purl.obolibrary.org/obo/UBERON_0016553respiratory system mucus
http://purl.obolibrary.org/obo/UBERON_0000912mucus
HP:0004639Elevated amniotic fluid alpha-fetoprotein
http://purl.obolibrary.org/obo/UBERON_0016554white matter of midbrain
http://purl.obolibrary.org/obo/GO_0006600creatine metabolic process
HP:0004634Cuboid-shaped vertebral bodies
HP:0004635Cervical C5/C6 vertebrae fusion
HP:0004637Decreased cervical spine mobility
http://purl.obolibrary.org/obo/UBERON_0004572arterial system
HP:0004630Anterior beaking of thoracic vertebrae
http://purl.obolibrary.org/obo/UBERON_0004571systemic arterial system
HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles
HP:0004632Cervical segmentation defect
HP:0004633Lower thoracic kyphosis
http://purl.obolibrary.org/obo/UBERON_0016565cerebral blood vessel
HP:0004646Hypoplasia of the nasal bone
http://purl.obolibrary.org/obo/UBERON_0004581systemic venous system
http://purl.obolibrary.org/obo/UBERON_0016570lamina of gray matter of spinal cord
HP:0002009Potter facies
HP:0004660Hypoplasia of facial musculature
HP:0002000Short columella
HP:0004661Frontalis muscle weakness
HP:0002006Facial cleft
HP:0002007Frontal bossing
HP:0002002Deep philtrum
HP:0004664Facial midline hemangioma
HP:0002003Large forehead
http://purl.obolibrary.org/obo/UBERON_0004539right kidney
http://www.informatics.jax.org/marker/MGI:106185Ccr2 (mouse)
http://purl.obolibrary.org/obo/UBERON_0004538left kidney
http://purl.obolibrary.org/obo/UBERON_0002113kidney
HP:0100450Curved distal phalanx of the 4th toe
http://purl.obolibrary.org/obo/UBERON_0004534right testis
http://purl.obolibrary.org/obo/UBERON_0016510epithelium of male urethra
http://purl.obolibrary.org/obo/UBERON_0004533left testis
http://purl.obolibrary.org/obo/UBERON_0000473testis
http://purl.obolibrary.org/obo/UBERON_0000991gonad
HP:0100452Osteolytic defects of the middle phalanx of the 3rd toe
HP:0100451Curved distal phalanx of the 5th toe
HP:0100454Osteolytic defects of the middle phalanx of the 5th toe
HP:0100453Osteolytic defects of the middle phalanx of the 4th toe
HP:0100456Osteolytic defects of the proximal phalanx of the 4th toe
HP:0100455Osteolytic defects of the proximal phalanx of the 3rd toe
HP:0100458Osteolytic defects of the distal phalanx of the 3rd toe
HP:0010363Osteolytic defects of the phalanges of the 3rd toe
HP:0100457Osteolytic defects of the proximal phalanx of the 5th toe
HP:0100459Osteolytic defects of the distal phalanx of the 4th toe
HP:0010375Osteolytic defects of the phalanges of the 4th toe
HP:0002099Asthma
HP:0002092Pulmonary arterial hypertension
HP:0004890Elevated pulmonary artery pressure
http://purl.obolibrary.org/obo/UBERON_0016512lumen of duodenum
http://purl.obolibrary.org/obo/UBERON_0016513cavity of left atrium
http://purl.obolibrary.org/obo/UBERON_0016514cavity of left ventricle
http://purl.obolibrary.org/obo/UBERON_0016517lumen of jejunum
http://purl.obolibrary.org/obo/UBERON_0004549right eye
http://purl.obolibrary.org/obo/UBERON_0004548left eye
http://purl.obolibrary.org/obo/UBERON_0016520epithelium of female urethra
http://purl.obolibrary.org/obo/UBERON_0002325epithelium of urethra
http://purl.obolibrary.org/obo/UBERON_0004544epididymis epithelium
http://purl.obolibrary.org/obo/UBERON_0016522cavity of right atrium
HP:0100441Bullet-shaped distal phalanx of the 4th toe
HP:0100440Bullet-shaped distal phalanx of the 3rd toe
HP:0100443Curved middle phalanx of the 3rd toe
HP:0100442Bullet-shaped distal phalanx of the 5th toe
HP:0100445Curved middle phalanx of the 5th toe
HP:0100444Curved middle phalanx of the 4th toe
HP:0010197Curved middle toe phalanx
HP:0100447Curved proximal phalanx of the 4th toe
HP:0010374Curved 4th toe phalanx
HP:0100446Curved proximal phalanx of the 3rd toe
HP:0100449Curved distal phalanx of the 3rd toe
HP:0010188Curved distal toe phalanx
HP:0010362Curved 3rd toe phalanx
HP:0100448Curved proximal phalanx of the 5th toe
HP:0010206Curved proximal toe phalanx
HP:0010386Curved 5th toe phalanx
HP:0010176Curved toe phalanx
http://purl.obolibrary.org/obo/UBERON_0016525frontal lobe
http://purl.obolibrary.org/obo/UBERON_0016528white matter of frontal lobe
http://purl.obolibrary.org/obo/UBERON_0016530parietal cortex
http://purl.obolibrary.org/obo/UBERON_0016531white matter of parietal lobe
http://purl.obolibrary.org/obo/CHEBI_60525molybdenum cofactor(2-)
http://purl.obolibrary.org/obo/CHEBI_64775organic anionic group
http://purl.obolibrary.org/obo/CHEBI_64767anionic group
HP:0100430Broad proximal phalanx of the 5th toe
HP:0100432Broad distal phalanx of the 4th toe
HP:0100431Broad distal phalanx of the 3rd toe
HP:0100434Bullet-shaped middle phalanx of the 3rd toe
HP:0100433Broad distal phalanx of the 5th toe
HP:0010186Broad distal phalanx of the toes
HP:0100436Bullet-shaped middle phalanx of the 5th toe
HP:0100435Bullet-shaped middle phalanx of the 4th toe
HP:0100438Bullet-shaped proximal phalanx of the 4th toe
HP:0010373Bullet-shaped 4th toe phalanx
HP:0100437Bullet-shaped proximal phalanx of the 3rd toe
HP:0010361Bullet-shaped 3rd toe phalanx
HP:0100439Bullet-shaped proximal phalanx of the 5th toe
HP:0010205Bullet-shaped proximal toe phalanx
HP:0010385Bullet-shaped 5th toe phalanx
HP:0010175Bullet-shaped toe phalanx
http://purl.obolibrary.org/obo/UBERON_0004554hindlimb digital artery
http://purl.obolibrary.org/obo/UBERON_0016534white matter of temporal lobe
http://purl.obolibrary.org/obo/UBERON_0004553forelimb digital artery
http://purl.obolibrary.org/obo/UBERON_0004552digital artery
http://purl.obolibrary.org/obo/UBERON_0016536white matter of limbic lobe
http://purl.obolibrary.org/obo/UBERON_0016527white matter of cerebral lobe
http://purl.obolibrary.org/obo/UBERON_0016538temporal cortex
http://purl.obolibrary.org/obo/PR_O73727insulin (zebrafish)
http://purl.obolibrary.org/obo/UBERON_0016542limbic cortex
HP:0100421Partial duplication of the middle phalanx of the 5th toe
HP:0100420Partial duplication of the middle phalanx of the 4th toe
HP:0100423Partial duplication of the proximal phalanx of the 4th toe
HP:0100422Partial duplication of the proximal phalanx of the 3rd toe
HP:0100425Broad middle phalanx of the 3rd toe
HP:0100424Partial duplication of the proximal phalanx of the 5th toe
HP:0100427Broad middle phalanx of the 5th toe
HP:0010384Broad phalanges of the 5th toe
HP:0100426Broad middle phalanx of the 4th toe
HP:0010195Broad middle phalanges of the toes
HP:0100429Broad proximal phalanx of the 4th toe
HP:0010372Broad phalanges of the 4th toe
HP:0100428Broad proximal phalanx of the 3rd toe
HP:0010204Broad proximal phalanx of toe
HP:0010360Broad phalanges of the 3rd toe
HP:0010174Broad phalanx of the toes
http://purl.obolibrary.org/obo/CHEBI_355861H-purine
http://purl.obolibrary.org/obo/CHEBI_59558medium-chain fatty acid anion
http://purl.obolibrary.org/obo/CHEBI_355883H-purine
http://purl.obolibrary.org/obo/CHEBI_355899H-purine
http://purl.obolibrary.org/obo/UBERON_0016549central nervous system white matter layer
http://purl.obolibrary.org/obo/CHEBI_59554medium-chain fatty acid
http://purl.obolibrary.org/obo/CHEBI_35584purine
http://purl.obolibrary.org/obo/CHEBI_35570mancude organic heterobicyclic parent
http://purl.obolibrary.org/obo/CHEBI_35571mancude organic heterocyclic parent
http://purl.obolibrary.org/obo/CHEBI_35573organic mancude parent
http://purl.obolibrary.org/obo/CHEBI_35568mancude ring
http://purl.obolibrary.org/obo/CHEBI_59561diamino acid anion
HP:0100410Complete duplication of the middle phalanx of the 3rd toe
HP:0100412Complete duplication of the middle phalanx of the 5th toe
HP:0100411Complete duplication of the middle phalanx of the 4th toe
HP:0100414Complete duplication of the proximal phalanx of the 4th toe
HP:0100413Complete duplication of the proximal phalanx of the 3rd toe
HP:0100416Partial duplication of the distal phalanx of the 3rd toe
HP:0100415Complete duplication of the proximal phalanx of the 5th toe
HP:0100418Partial duplication of the distal phalanx of the 5th toe
HP:0002055Curved linear dimple below the lower lip
HP:0000178Abnormality of lower lip
HP:0002054Heavy supraorbital ridges
HP:0000336Prominent supraorbital ridges
HP:0100417Partial duplication of the distal phalanx of the 4th toe
HP:0100419Partial duplication of the middle phalanx of the 3rd toe
HP:0002050Macroorchidism, postpubertal
HP:0002057Prominent glabella
HP:0002058Myopathic facies
http://purl.obolibrary.org/obo/UBERON_0004507skeletal muscle tissue of temporalis
http://purl.obolibrary.org/obo/UBERON_0004506skeletal muscle tissue of masseter
http://purl.obolibrary.org/obo/UBERON_0004505skeletal muscle tissue of orbicularis oculi
http://purl.obolibrary.org/obo/UBERON_0004504skeletal muscle tissue of mylohyoid
http://purl.obolibrary.org/obo/UBERON_0004503skeletal muscle tissue of digastric
http://purl.obolibrary.org/obo/UBERON_0004502skeletal muscle tissue of biceps brachii
http://purl.obolibrary.org/obo/UBERON_0004500skeletal muscle tissue of deltoid
HP:0100401Duplication of the middle phalanx of the 3rd toe
HP:0100403Duplication of the middle phalanx of the 5th toe
HP:0010202Duplication of middle phalanx of toe
http://purl.obolibrary.org/obo/UBERON_0004509skeletal muscle tissue of trapezius
HP:0100402Duplication of the middle phalanx of the 4th toe
http://purl.obolibrary.org/obo/UBERON_0004508skeletal muscle tissue of levator palpebrae superioris
HP:0002064Spastic gait
HP:0100405Duplication of the proximal phalanx of the 4th toe
HP:0010382Abnormality of the proximal phalanx of the 4th toe
HP:0100404Duplication of the proximal phalanx of the 3rd toe
HP:0010211Duplication of proximal phalanx of toe
HP:0100407Complete duplication of the distal phalanx of the 3rd toe
HP:0100398Duplication of the distal phalanx of the 3rd toe
HP:0010368Abnormality of the distal phalanx of the 3rd toe
HP:0010367Duplication of phalanx of the 3rd toe
HP:0100406Duplication of the proximal phalanx of the 5th toe
HP:0010394Abnormality of the proximal phalanx of the 5th toe
HP:0100409Complete duplication of the distal phalanx of the 5th toe
HP:0100400Duplication of the distal phalanx of the 5th toe
HP:0010391Duplication of the phalanges of the 5th toe
HP:0010392Abnormality of the distal phalanx of the 5th toe
HP:0100408Complete duplication of the distal phalanx of the 4th toe
HP:0100399Duplication of the distal phalanx of the 4th toe
HP:0010379Duplication of phalanx of the 4th toe
HP:0010380Abnormality of the distal phalanx of the 4th toe
HP:0010193Duplication of distal phalanx of toe
HP:0010181Duplication of phalanx of toe
HP:0002068Neuromuscular dysphagia
HP:0002067Bradykinesia
http://purl.obolibrary.org/obo/UBERON_0004516smooth muscle tissue of terminal bronchiole
http://purl.obolibrary.org/obo/UBERON_0004515smooth muscle tissue of bronchiole
http://purl.obolibrary.org/obo/UBERON_0004511skeletal muscle tissue of rectus abdominis
HP:0002080Intention tremor
http://purl.obolibrary.org/obo/UBERON_0004519muscle of anal triangle
http://purl.obolibrary.org/obo/UBERON_0002379perineal muscle
HP:0002075Dysdiadochokinesis
HP:0002074Increased neuronal autofluorescent lipopigment
HP:0002077Migraine with aura
HP:0002073Progressive cerebellar ataxia
http://purl.obolibrary.org/obo/UBERON_0004510skeletal muscle tissue of pectoralis major
HP:0002079Hypoplasia of the corpus callosum
HP:0012430Cerebral white matter hypoplasia
http://purl.obolibrary.org/obo/UBERON_0004528alveolar ridge of mandible
http://purl.obolibrary.org/obo/UBERON_0004527alveolar process of maxilla
HP:0002091Restrictive ventilatory defect
http://purl.obolibrary.org/obo/PR_Q64314hematopoietic progenitor cell antigen CD34 (mouse)
http://purl.obolibrary.org/obo/UBERON_0016509cavity of right ventricle
HP:0002085Occipital encephalocele
HP:0002083Migraine without aura
HP:0002076Migraine
http://purl.obolibrary.org/obo/UBERON_0004521vasculature of muscle organ
http://purl.obolibrary.org/obo/UBERON_0004522vasculature of musculoskeletal system
http://purl.obolibrary.org/obo/UBERON_0004520striated muscle tissue of prostate
HP:0002089Pulmonary hypoplasia
http://purl.obolibrary.org/obo/GO_0043504mitochondrial DNA repair
http://purl.obolibrary.org/obo/GO_0006281DNA repair
http://purl.obolibrary.org/obo/CHEBI_23509cysteine derivative
http://purl.obolibrary.org/obo/GO_0006591ornithine metabolic process
http://purl.obolibrary.org/obo/CHEBI_23505cystathionines
http://purl.obolibrary.org/obo/CHEBI_35519cholane
http://purl.obolibrary.org/obo/CHEBI_35516cholestane
http://purl.obolibrary.org/obo/CHEBI_35509androstane
http://purl.obolibrary.org/obo/CHEBI_35508steroid fundamental parent
http://purl.obolibrary.org/obo/CHEBI_35507natural product fundamental parent
HP:0100493Hypoammonemia
HP:0100495Mastocytosis
HP:0100494Abnormal mast cell morphology
HP:0100497Vitamin B3 deficiency
HP:0100496Abnormality of the vitamin B3 metabolism
HP:0100499Tibial deviation of toes
HP:0100481Proximal/middle symphalangism of 4th toe
HP:0100480Proximal/middle symphalangism of 3rd toe
HP:0100483Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal
http://purl.obolibrary.org/obo/PR_000021169parathyroid hormone, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000013429parathyroid hormone
HP:0100482Proximal/middle symphalangism of 5th toe
HP:0100485Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal
HP:0100484Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal
HP:0100487Triangular shaped distal phalanx of the 5th toe
HP:0010390Triangular shaped phalanges of the 5th toe
HP:0100486Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal
HP:0010378Triangular shaped phalanges of the 4th toe
HP:0100489Proximal/middle symphalangism of 2nd toe
HP:0010401Symphalangism affecting the proximal phalanx of the 2nd toe
HP:0010358Abnormality of the proximal phalanx of the 2nd toe
HP:0010366Triangular shaped phalanges of the 3rd toe
HP:0010210Triangular shaped proximal phalanges of the toes
HP:0010180Triangular shaped phalanges of the toes
HP:0010370Abnormality of the proximal phalanx of the 3rd toe
HP:0010410Symphalangism affecting the middle phalanx of the 2nd toe
HP:0010353Symphalangism affecting the phalanges of the 2nd toe
HP:0100488Synostosis of the proximal phalanx of the hallux with the 1st metatarsal
HP:0010091Symphalangism affecting the proximal phalanx of the hallux
HP:0010200Symphalangism affecting the middle phalanges of the toes
HP:0010052Abnormal morphology of the proximal phalanx of the hallux
HP:0010064Symphalangism affecting the phalanges of the hallux
HP:0010209Symphalangism affecting the proximal phalanges of the toes
HP:0100237Proximal foot symphalangism
HP:0010073Synostosis involving the 1st metatarsal
HP:0010054Abnormality of the first metatarsal bone
http://purl.obolibrary.org/obo/CHEBI_35524sympathomimetic agent
http://purl.obolibrary.org/obo/CHEBI_35526hypoglycemic agent
http://purl.obolibrary.org/obo/CHEBI_35522beta-adrenergic agonist
http://purl.obolibrary.org/obo/CHEBI_37886adrenergic agonist
HP:0100474Symphalangism affecting the proximal phalanx of the 4th toe
HP:0100473Symphalangism affecting the proximal phalanx of the 3rd toe
http://purl.obolibrary.org/obo/GO_0031594neuromuscular junction
http://purl.obolibrary.org/obo/GO_0045202synapse
HP:0100476Symphalangism affecting the distal phalanx of the 3rd toe
HP:0100470Symphalangism affecting the middle phalanx of the 3rd toe
HP:0010365Symphalangism affecting the phalanges of the 3rd toe
HP:0100475Symphalangism affecting the proximal phalanx of the 5th toe
HP:0100478Symphalangism affecting the distal phalanx of the 5th toe
HP:0100472Symphalangism affecting the middle phalanx of the 5th toe
HP:0010389Symphalangism affecting the phalanges of the 5th toe
HP:0100477Symphalangism affecting the distal phalanx of the 4th toe
HP:0100471Symphalangism affecting the middle phalanx of the 4th toe
HP:0010377Symphalangism affecting the phalanges of the 4th toe
http://purl.obolibrary.org/obo/CHEBI_35552heterocyclic organic fundamental parent
HP:0100461Patchy sclerosis of the middle phalanx of the 3rd toe
HP:0100936Sclerosis of the middle phalanx of the 3rd toe
HP:0100460Osteolytic defects of the distal phalanx of the 5th toe
HP:0010387Osteolytic defects of the phalanges of the 5th toe
HP:0100463Patchy sclerosis of the middle phalanx of the 5th toe
HP:0100938Sclerosis of the middle phalanx of the 5th toe
HP:0100462Patchy sclerosis of the middle phalanx of the 4th toe
HP:0010199Patchy sclerosis of middle toe phalanx
HP:0100937Sclerosis of the middle phalanx of the 4th toe
HP:0100947Sclerosis of middle toe phalanx
HP:0100465Patchy sclerosis of the proximal phalanx of the 4th toe
HP:0100933Sclerosis of the proximal phalanx of the 4th toe
HP:0100464Patchy sclerosis of the proximal phalanx of the 3rd toe
HP:0100932Sclerosis of the proximal phalanx of the 3rd toe
HP:0100467Patchy sclerosis of the distal phalanx of the 3rd toe
HP:0010364Patchy sclerosis of 3rd toe phalanx
HP:0100940Sclerosis of the distal phalanx of the 3rd toe
HP:0100927Sclerosis of 3rd toe phalanx
HP:0100466Patchy sclerosis of the proximal phalanx of the 5th toe
HP:0100934Sclerosis of the proximal phalanx of the 5th toe
HP:0010208Patchy sclerosis of proximal toe phalanx
HP:0100946Sclerosis of proximal toe phalanx
HP:0100469Patchy sclerosis of the distal phalanx of the 5th toe
HP:0010388Patchy sclerosis of 5th toe phalanx
HP:0100942Sclerosis of the distal phalanx of the 5th toe
HP:0100929Sclerosis of 5th toe phalanx
HP:0100468Patchy sclerosis of the distal phalanx of the 4th toe
HP:0010190Patchy sclerosis of distal toe phalanx
HP:0010376Patchy sclerosis of 4th toe phalanx
HP:0010178Patchy sclerosis of toe phalanx
HP:0100941Sclerosis of the distal phalanx of the 4th toe
HP:0100928Sclerosis of 4th toe phalanx
HP:0100948Sclerosis of distal toe phalanx
HP:0100924Sclerosis of toe phalanx
http://purl.obolibrary.org/obo/GO_0043588skin development
HP:0004609Patchy distortion of vertebrae
HP:0004605Absent vertebral body mineralization
HP:0004606Unossified vertebral bodies
HP:0004607Anterior beaking of lower thoracic vertebrae
HP:0004608Anteriorly placed odontoid process
HP:0004601Spina bifida occulta at L5
HP:0004602Cervical C2/C3 vertebral fusion
HP:0004603Hyperconvex vertebral body endplates
HP:0004616Cleft vertebral arch
HP:0004617Butterfly vertebral arch
HP:0004618Sandwich appearance of vertebral bodies
HP:0004619Lumbar kyphoscoliosis
HP:0008454Lumbar kyphosis
http://purl.obolibrary.org/obo/GO_0006541glutamine metabolic process
http://purl.obolibrary.org/obo/GO_0006544glycine metabolic process
HP:0004614Spina bifida occulta at S1
HP:0004610Lumbar spinal canal stenosis
HP:0004611Anterior concavity of thoracic vertebrae
HP:0004629Small cervical vertebral bodies
http://purl.obolibrary.org/obo/GO_0006534cysteine metabolic process
http://purl.obolibrary.org/obo/GO_0006525arginine metabolic process
HP:0004625Biconvex vertebral bodies
HP:0004626Lumbar scoliosis
HP:0004621Enlarged vertebral pedicles
HP:0004622Progressive intervertebral space narrowing
HP:0002945Intervertebral space narrowing
http://purl.obolibrary.org/obo/GO_0006560proline metabolic process
http://purl.obolibrary.org/obo/GO_0006563L-serine metabolic process
http://purl.obolibrary.org/obo/GO_0006566threonine metabolic process
http://purl.obolibrary.org/obo/GO_0006568tryptophan metabolic process
http://purl.obolibrary.org/obo/GO_0006558L-phenylalanine metabolic process
http://purl.obolibrary.org/obo/GO_0043549regulation of kinase activity
http://purl.obolibrary.org/obo/GO_0042325regulation of phosphorylation
http://purl.obolibrary.org/obo/GO_0006551leucine metabolic process
http://purl.obolibrary.org/obo/GO_0006553lysine metabolic process
http://purl.obolibrary.org/obo/GO_0006555methionine metabolic process
http://purl.obolibrary.org/obo/GO_0006547histidine metabolic process
http://purl.obolibrary.org/obo/GO_0052803imidazole-containing compound metabolic process
http://purl.obolibrary.org/obo/GO_0006549isoleucine metabolic process
http://purl.obolibrary.org/obo/GO_0031514motile cilium
http://purl.obolibrary.org/obo/GO_0005929cilium
http://purl.obolibrary.org/obo/GO_0006582melanin metabolic process
http://purl.obolibrary.org/obo/GO_0006586indolalkylamine metabolic process
http://purl.obolibrary.org/obo/GO_0042430indole-containing compound metabolic process
http://purl.obolibrary.org/obo/GO_0006570tyrosine metabolic process
http://purl.obolibrary.org/obo/GO_0006573valine metabolic process
http://purl.obolibrary.org/obo/GO_0006576cellular biogenic amine metabolic process
http://purl.obolibrary.org/obo/UBERON_0016475skin of forehead
http://purl.obolibrary.org/obo/UBERON_0004491cardiac muscle tissue of interatrial septum
HP:0004791Esophageal ulceration
HP:0004792Rectoperineal fistula
HP:0002132Porencephalic cyst
HP:0004794Malrotation of small bowel
HP:0002131Episodic ataxia
HP:0004790Hypoplasia of the small intestine
HP:0002138Subarachnoid hemorrhage
http://purl.obolibrary.org/obo/UBERON_0004499skeletal muscle tissue of tibialis anterior
http://purl.obolibrary.org/obo/UBERON_0016479capsule of liver
HP:0004799Jejunoileal diverticula
http://purl.obolibrary.org/obo/UBERON_0004498skeletal muscle tissue of quadriceps femoris
HP:0002139Arrhinencephaly
HP:0002323Anencephaly
http://purl.obolibrary.org/obo/UBERON_0004495skeletal muscle tissue of diaphragm
HP:0004795Hamartomatous stomach polyps
HP:0004797Multiple small bowel atresias
HP:0002136Broad-based gait
HP:0002135Basal ganglia calcification
http://purl.obolibrary.org/obo/UBERON_0016480interlobular stroma of liver
http://purl.obolibrary.org/obo/UBERON_0016478liver stroma
http://purl.obolibrary.org/obo/UBERON_0016481bronchial lymph node
HP:0002141Gait imbalance
HP:0002149Hyperuricemia
HP:0002144Tethered cord
HP:0031938Abnormal conus terminalis morphology
http://purl.obolibrary.org/obo/UBERON_0016490auditory system
http://purl.obolibrary.org/obo/UBERON_0007037mechanosensory system
HP:0002151Increased serum lactate
HP:0002153Hyperkalemia
HP:0002150Hypercalciuria
HP:0002159Heparan sulfate excretion in urine
HP:0002156Homocystinuria
HP:0002155Hypertriglyceridemia
http://purl.obolibrary.org/obo/CHEBI_2571aliphatic alcohol
HP:0002162Low posterior hairline
HP:0002165Pterygium of nails
HP:0002161Hyperlysinemia
HP:0002160Hyperhomocystinemia
HP:0002166Impaired vibration sensation in the lower limbs
HP:0002495Impaired vibratory sensation
HP:0002168Scanning speech
http://purl.obolibrary.org/obo/UBERON_0016430palmar branch of median nerve
http://purl.obolibrary.org/obo/UBERON_0004456entire sense organ system
http://purl.obolibrary.org/obo/UBERON_0016435chest wall
http://purl.obolibrary.org/obo/UBERON_0004455neurula embryo
http://purl.obolibrary.org/obo/UBERON_0000922embryo
http://purl.obolibrary.org/obo/UBERON_0004454tarsal region
http://purl.obolibrary.org/obo/UBERON_0004453metacarpus region
http://purl.obolibrary.org/obo/UBERON_0009877metapodium region
HP:0004757Paroxysmal atrial fibrillation
http://purl.obolibrary.org/obo/UBERON_0004452carpal region
HP:0004758Effort-induced polymorphic ventricular tachycardia
HP:0004751Paroxysmal ventricular tachycardia
HP:0004752Congenital atrioventricular dissociation
HP:0004754Permanent atrial fibrillation
http://purl.obolibrary.org/obo/UBERON_0016440glabella region of bone
http://purl.obolibrary.org/obo/UBERON_0016442median palatine suture
HP:0002108Spontaneous pneumothorax
http://purl.obolibrary.org/obo/UBERON_0004469musculature of back
http://purl.obolibrary.org/obo/UBERON_0004468set of muscles of vertebral column
http://purl.obolibrary.org/obo/UBERON_0004467musculature of pharynx
HP:0004761Post-angioplasty coronary artery restenosis
HP:0002105Hemoptysis
http://purl.obolibrary.org/obo/UBERON_0004465musculature of neck
http://purl.obolibrary.org/obo/UBERON_0016447hair of trunk
http://purl.obolibrary.org/obo/UBERON_0004464musculature of thorax
HP:0004768Sparse anterior scalp hair
http://purl.obolibrary.org/obo/UBERON_0004463musculature of hindlimb stylopod
http://purl.obolibrary.org/obo/UBERON_0004462musculature of body wall
HP:0004762Hypoplasia of right ventricle
HP:0004763Paroxysmal supraventricular tachycardia
http://purl.obolibrary.org/obo/UBERON_0004461skeletal musculature of head
HP:0002100Recurrent aspiration pneumonia
HP:0004764Myxomatous mitral valve degeneration
HP:0002102Pleuritis
http://purl.obolibrary.org/obo/UBERON_0016452upper secondary premolar tooth
http://purl.obolibrary.org/obo/UBERON_0016944upper premolar tooth
http://purl.obolibrary.org/obo/UBERON_0016453lower secondary premolar tooth
http://purl.obolibrary.org/obo/UBERON_0017270secondary premolar tooth
http://purl.obolibrary.org/obo/UBERON_0016943lower premolar tooth
http://purl.obolibrary.org/obo/UBERON_0007120premolar tooth
http://purl.obolibrary.org/obo/UBERON_0016454upper central secondary incisor tooth
http://purl.obolibrary.org/obo/UBERON_0016455upper lateral secondary incisor tooth
http://purl.obolibrary.org/obo/UBERON_0019253upper secondary incisor tooth
http://purl.obolibrary.org/obo/UBERON_0004478musculature of larynx
HP:0002110Bronchiectasis
HP:0004771Premature graying of body hair
HP:0002216Premature graying of hair
http://purl.obolibrary.org/obo/UBERON_0004476musculature of shoulder
http://purl.obolibrary.org/obo/UBERON_0016458esophageal hiatus
http://purl.obolibrary.org/obo/UBERON_0004475musculature of hip
HP:0004779Brittle scalp hair
HP:0002299Brittle hair
http://purl.obolibrary.org/obo/UBERON_0016459posterior pole of lens
http://purl.obolibrary.org/obo/UBERON_0019210pole of lens
http://purl.obolibrary.org/obo/UBERON_0004473musculature of face
http://purl.obolibrary.org/obo/UBERON_0004471musculature of pectoral girdle
http://purl.obolibrary.org/obo/UBERON_0004470musculature of pelvic girdle
http://purl.obolibrary.org/obo/UBERON_0016462periorbital skin
http://purl.obolibrary.org/obo/UBERON_0016464dorsum of nose
http://purl.obolibrary.org/obo/UBERON_0016466antihelix
http://purl.obolibrary.org/obo/UBERON_0004489musculature of manus
http://purl.obolibrary.org/obo/UBERON_0016467antitragus
HP:0004780Elbow hypertrichosis
HP:0004783Duodenal polyposis
HP:0002127Abnormal upper motor neuron morphology
http://purl.obolibrary.org/obo/UBERON_0004488musculature of pes
HP:0004788Intestinal lymphedema
http://purl.obolibrary.org/obo/UBERON_0004487musculature of forelimb zeugopod
http://purl.obolibrary.org/obo/UBERON_0004474musculature of arm
HP:0004789Lactose intolerance
HP:0002024Malabsorption
http://purl.obolibrary.org/obo/UBERON_0004486musculature of perineum
http://purl.obolibrary.org/obo/GO_0043474pigment metabolic process involved in pigmentation
HP:0004784Juvenile gastrointestinal polyposis
HP:0004390Hamartomatous polyposis
HP:0004785Malrotation of colon
HP:0004786Jejunal diverticula
HP:0002256Diverticula of small intestine
http://purl.obolibrary.org/obo/UBERON_0004481musculature of upper limb
http://purl.obolibrary.org/obo/UBERON_0007269pectoral appendage musculature
http://purl.obolibrary.org/obo/UBERON_0014793musculature of pectoral complex
HP:0004787Fulminant hepatitis
HP:0004448Fulminant hepatic failure
HP:0006554Acute hepatic failure
http://purl.obolibrary.org/obo/UBERON_0004413proximal epiphysis of radius
http://purl.obolibrary.org/obo/UBERON_0004412proximal epiphysis of femur
HP:0100573Muscular cardiac diverticulum
HP:0100572Fibrous cardiac diverticulum
HP:0100571Cardiac diverticulum
HP:0006698Dilatation of the ventricular cavity
HP:0100575Neoplasm of the gallbladder
HP:0100577Urinary bladder inflammation
HP:0100576Amaurosis fugax
HP:0100578Lipoatrophy
HP:0009125Lipodystrophy
http://purl.obolibrary.org/obo/UBERON_0004411proximal epiphysis of humerus
http://purl.obolibrary.org/obo/UBERON_0004410distal epiphysis of fibula
http://purl.obolibrary.org/obo/UBERON_0004429proximal epiphysis of third metatarsal bone
http://purl.obolibrary.org/obo/UBERON_0004428proximal epiphysis of second metatarsal bone
http://purl.obolibrary.org/obo/UBERON_0004427proximal epiphysis of first metatarsal bone
http://purl.obolibrary.org/obo/UBERON_0004426proximal epiphysis of fifth metacarpal bone
http://purl.obolibrary.org/obo/UBERON_0004425proximal epiphysis of fourth metacarpal bone
http://purl.obolibrary.org/obo/UBERON_0004424proximal epiphysis of third metacarpal bone
http://purl.obolibrary.org/obo/UBERON_0016400infrapatellar fat pad
http://purl.obolibrary.org/obo/UBERON_0004423proximal epiphysis of second metacarpal bone
HP:0100562Diplomyelia
HP:0100564Triplomyelia
HP:0100563Diastomatomyelia
HP:0100566Amyelia
HP:0100565Hydromyelia
http://purl.obolibrary.org/obo/UBERON_0004422proximal epiphysis of first metacarpal bone
http://purl.obolibrary.org/obo/UBERON_0004416proximal epiphysis of metacarpal bone
http://purl.obolibrary.org/obo/UBERON_0016404cervical vertebral arch joint
http://purl.obolibrary.org/obo/UBERON_0016405pulmonary capillary
http://purl.obolibrary.org/obo/PR_O09100endothelial transcription factor GATA-2 (mouse)
http://purl.obolibrary.org/obo/PR_000007858endothelial transcription factor GATA-2
http://purl.obolibrary.org/obo/UBERON_0016408corona of glans penis
http://purl.obolibrary.org/obo/UBERON_0016409base of glans penis
http://purl.obolibrary.org/obo/CHEBI_84497(omega-1)-hydroxy fatty acid anion
http://purl.obolibrary.org/obo/CHEBI_59835hydroxy fatty acid anion
http://purl.obolibrary.org/obo/UBERON_0004439proximal epiphysis of middle phalanx of manual digit 5
http://purl.obolibrary.org/obo/UBERON_0004438proximal epiphysis of middle phalanx of manual digit 4
http://purl.obolibrary.org/obo/UBERON_0004437proximal epiphysis of middle phalanx of manual digit 3
http://purl.obolibrary.org/obo/UBERON_0004436proximal epiphysis of middle phalanx of manual digit 2
http://purl.obolibrary.org/obo/UBERON_0016410male breast
http://purl.obolibrary.org/obo/UBERON_0000310breast
http://purl.obolibrary.org/obo/UBERON_0004435proximal epiphysis of distal phalanx of manual digit 5
http://purl.obolibrary.org/obo/UBERON_0004434proximal epiphysis of distal phalanx of manual digit 4
http://purl.obolibrary.org/obo/UBERON_0016412central part of body of bony vertebral centrum
HP:0100550Tendon rupture
HP:0100553Hemihypertrophy of lower limb
HP:0010496Hypertrophy of the lower limb
HP:0100554Hemihypertrophy of upper limb
HP:0010484Hypertrophy of the upper limb
HP:0100557Hemiatrophy of lower limb
HP:0006385Short lower limbs
HP:0100559Lower limb asymmetry
HP:0100558Hemiatrophy of upper limb
HP:0100560Upper limb asymmetry
HP:0100556Hemiatrophy
HP:0002983Micromelia
http://purl.obolibrary.org/obo/UBERON_0004433proximal epiphysis of distal phalanx of manual digit 3
http://purl.obolibrary.org/obo/UBERON_0016413medullary cavity of long bone
http://purl.obolibrary.org/obo/UBERON_0002484bone marrow cavity
http://purl.obolibrary.org/obo/UBERON_0004432proximal epiphysis of distal phalanx of manual digit 2
http://purl.obolibrary.org/obo/UBERON_0004431proximal epiphysis of fifth metatarsal bone
http://purl.obolibrary.org/obo/UBERON_0004430proximal epiphysis of fourth metatarsal bone
http://purl.obolibrary.org/obo/UBERON_0004415proximal epiphysis of metatarsal bone
http://purl.obolibrary.org/obo/UBERON_0016416anterior chest
http://purl.obolibrary.org/obo/CHEBI_35472anti-inflammatory drug
http://purl.obolibrary.org/obo/CHEBI_67079anti-inflammatory agent
http://purl.obolibrary.org/obo/UBERON_0016418nasion
http://purl.obolibrary.org/obo/UBERON_0016419bony part of vertebral arch
http://purl.obolibrary.org/obo/UBERON_0004449cerebral artery
http://purl.obolibrary.org/obo/UBERON_0016422compact bone of long bone
http://purl.obolibrary.org/obo/UBERON_0004445proximal epiphysis of proximal phalanx of manual digit 1
http://purl.obolibrary.org/obo/UBERON_0016423compact bone of diaphysis
HP:0100541Femoral hernia
HP:0100546Carotid artery stenosis
HP:0100548Exstrophy
http://purl.obolibrary.org/obo/CHEBI_35469antidepressant
http://purl.obolibrary.org/obo/CHEBI_35471psychotropic drug
http://purl.obolibrary.org/obo/UBERON_0004444proximal epiphysis of distal phalanx of manual digit 1
http://purl.obolibrary.org/obo/UBERON_0004417proximal epiphysis of phalanx of manual digit 1
http://purl.obolibrary.org/obo/UBERON_0004443proximal epiphysis of proximal phalanx of manual digit 5
http://purl.obolibrary.org/obo/UBERON_0004421proximal epiphysis of phalanx of manual digit 5
http://purl.obolibrary.org/obo/UBERON_0016425epiphyseal plate of radius
http://purl.obolibrary.org/obo/UBERON_0007390pectoral appendage cartilage tissue
http://purl.obolibrary.org/obo/UBERON_0007389paired limb/fin cartilage
http://purl.obolibrary.org/obo/UBERON_0002516epiphyseal plate
http://purl.obolibrary.org/obo/UBERON_0004442proximal epiphysis of proximal phalanx of manual digit 4
http://purl.obolibrary.org/obo/UBERON_0004420proximal epiphysis of phalanx of manual digit 4
http://purl.obolibrary.org/obo/UBERON_0016426proximal interphalangeal joint of little finger
http://purl.obolibrary.org/obo/UBERON_0009767proximal interphalangeal joint
http://purl.obolibrary.org/obo/UBERON_0007732interphalangeal joint of manual digit 5
http://purl.obolibrary.org/obo/UBERON_0007722interphalangeal joint of manus
http://purl.obolibrary.org/obo/UBERON_0004441proximal epiphysis of proximal phalanx of manual digit 3
http://purl.obolibrary.org/obo/UBERON_0004419proximal epiphysis of phalanx of manual digit 3
http://purl.obolibrary.org/obo/UBERON_0004440proximal epiphysis of proximal phalanx of manual digit 2
http://purl.obolibrary.org/obo/UBERON_0004418proximal epiphysis of phalanx of manual digit 2
http://purl.obolibrary.org/obo/UBERON_0004414proximal epiphysis of phalanx of manus
http://purl.obolibrary.org/obo/CHEBI_35492cystine zwitterion
HP:0100531Wind-swept deformity of the knees
HP:0002857Genu valgum
HP:0002970Genu varum
HP:0100532Scleritis
HP:0100535Tibiofibular diastasis
HP:0100534Episcleritis
HP:0002173Hypoglycemic seizures
HP:0002176Spinal cord compression
HP:0002172Postural instability
HP:0002179Opisthotonus
HP:0002190Choroid plexus cyst
HP:0100520Oliguria
HP:0100522Thymoma
HP:0100521Neoplasm of the thymus
HP:0100524Limb duplication
HP:0100523Liver abscess
HP:0002185Neurofibrillary tangles
HP:0100314Cerebral inclusion bodies
HP:0100525Urachus fistula
HP:0100528Pleuropulmonary blastoma
HP:0002187Intellectual disability, profound
HP:0100527Neoplasia of the pleura
HP:0002181Cerebral edema
HP:0002183Phonophobia
http://purl.obolibrary.org/obo/CHEBI_35488central nervous system depressant
http://purl.obolibrary.org/obo/CHEBI_35470central nervous system drug
HP:0002189Excessive daytime sleepiness
HP:0002188Delayed CNS myelination
HP:0100510Low levels of vitamin C
HP:0100513Low levels of vitamin E
http://www.informatics.jax.org/marker/MGI:1921853Cd200r3 (mouse)
HP:0100512Low levels of vitamin D
HP:0100511Abnormality of vitamin D metabolism
HP:0100515Pollakisuria
HP:0002195Dysgenesis of the cerebellar vermis
HP:0100514Abnormality of vitamin E metabolism
HP:0100517Neoplasm of the urethra
HP:0100519Anuria
HP:0002191Progressive spasticity
HP:0100518Dysuria
HP:0002193Pseudobulbar behavioral symptoms
HP:0002199Hypocalcemic seizures
http://purl.obolibrary.org/obo/UBERON_0004408distal epiphysis of ulna
http://purl.obolibrary.org/obo/UBERON_0004407distal epiphysis of radius
http://purl.obolibrary.org/obo/UBERON_0004406distal epiphysis of femur
http://purl.obolibrary.org/obo/UBERON_0004405distal epiphysis of tibia
http://purl.obolibrary.org/obo/UBERON_0004404distal epiphysis of humerus
http://purl.obolibrary.org/obo/UBERON_0004403periosteum of epiphysis
http://purl.obolibrary.org/obo/UBERON_0016896periosteum of long bone
http://purl.obolibrary.org/obo/UBERON_0004402bone tissue of proximal epiphysis
http://purl.obolibrary.org/obo/UBERON_0004401bone tissue of distal epiphysis
HP:0100502Vitamin B12 deficiency
http://purl.obolibrary.org/obo/UBERON_0004409distal epiphysis of phalanx of manus
HP:0100501Recurrent bronchiolitis
HP:0002837Recurrent bronchitis
HP:0012387Bronchitis
HP:0100504Low levels of vitamin B2
HP:0100503Low levels of vitamin B1
HP:0100506Low levels of vitamin B8
HP:0100505Low levels of vitamin B5
HP:0100507Reduced blood folate concentration
HP:0100509Abnormality of vitamin C metabolism
http://purl.obolibrary.org/obo/UBERON_0004400bone tissue of epiphysis
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12805XDH (human)
http://purl.obolibrary.org/obo/GO_0006487protein N-linked glycosylation
http://purl.obolibrary.org/obo/NCBITaxon_9606Homo sapiens
http://purl.obolibrary.org/obo/PR_000023661orotidine 5'-phosphate decarboxylase
http://purl.obolibrary.org/obo/GO_0031424keratinization
http://purl.obolibrary.org/obo/CHEBI_35418N-acetylneuraminate
http://purl.obolibrary.org/obo/CHEBI_21619N-acetylneuraminates
http://purl.obolibrary.org/obo/CHEBI_21663N-acylneuraminates
http://purl.obolibrary.org/obo/CHEBI_25506neuraminates
HP:0100592Peritoneal abscess
HP:0100595Camptocormia
HP:0100594Esophageal web
HP:0100596Absent nares
HP:0100599Bifid penis
HP:0100598Pulmonary edema
HP:0100580Barrett esophagus
HP:0100582Nasal polyposis
HP:0000433Abnormality of the nasal mucosa
HP:0100581Dilatation of renal calices
HP:0100583Corneal perforation
HP:0100586Sterile pyuria
HP:0100588Paraphimosis
HP:0004719Hyperechogenic kidneys
http://purl.obolibrary.org/obo/GO_0043473pigmentation
HP:0004717Axial malrotation of the kidney
http://purl.obolibrary.org/obo/GO_0043470regulation of carbohydrate catabolic process
HP:0004712Renal malrotation
HP:0004713Reversible renal failure
HP:0004727Impaired renal concentrating ability
HP:0004729Acute tubulointerstitial nephritis
HP:0004722Thickening of the glomerular basement membrane
http://purl.obolibrary.org/obo/GO_0043455regulation of secondary metabolic process
HP:0004724Calcium nephrolithiasis
HP:0004737Global glomerulosclerosis
HP:0000096Glomerulosclerosis
HP:0004734Renal cortical microcysts
HP:0000803Renal cortical cysts
HP:0004736Crossed fused renal ectopia
HP:0000086Ectopic kidney
HP:0004732Impaired renal uric acid clearance
HP:0004749Atrial flutter
http://purl.obolibrary.org/obo/GO_0006414translational elongation
HP:0004746Glomerular subendothelial electron-dense deposits
HP:0004742Abnormal renal collecting system morphology
HP:0004743Chronic tubulointerstitial nephritis
http://purl.obolibrary.org/obo/UBERON_0016399lymph node of upper limb
http://purl.obolibrary.org/obo/PR_P56528ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 (mouse)
http://www.informatics.jax.org/marker/MGI:2139667Dpyd (mouse)
http://purl.obolibrary.org/obo/CHEBI_2580unsaturated fatty acid anion
HP:0004704Short fifth metatarsal
http://purl.obolibrary.org/obo/GO_0006448regulation of translational elongation
http://purl.obolibrary.org/obo/CHEBI_41609carbonate
http://purl.obolibrary.org/obo/CHEBI_35604carbon oxoanion
http://purl.obolibrary.org/obo/UBERON_0004374vitelline vasculature
http://purl.obolibrary.org/obo/GO_0090139mitochondrial DNA packaging
HP:0003587Insidious onset
http://purl.obolibrary.org/obo/UBERON_0004370anterior limiting lamina of cornea
HP:0003593Infantile onset
http://purl.obolibrary.org/obo/UBERON_0004382epiphysis of humerus
http://purl.obolibrary.org/obo/UBERON_0004384epiphysis of femur
http://purl.obolibrary.org/obo/UBERON_0004385epiphysis of radius
HP:0003596Middle age onset
HP:0003584Late onset
http://purl.obolibrary.org/obo/CHEBI_53604N-acetyl-alpha-D-galactosaminyl-L-serine residue
http://purl.obolibrary.org/obo/UBERON_0004393epiphysis of third metacarpal bone
http://purl.obolibrary.org/obo/UBERON_0004394epiphysis of fourth metacarpal bone
http://purl.obolibrary.org/obo/UBERON_0004395epiphysis of first metatarsal bone
http://purl.obolibrary.org/obo/UBERON_0004396epiphysis of second metatarsal bone
http://purl.obolibrary.org/obo/UBERON_0004397epiphysis of third metatarsal bone
http://purl.obolibrary.org/obo/UBERON_0004398epiphysis of fourth metatarsal bone
http://purl.obolibrary.org/obo/UBERON_0004399epiphysis of fifth metatarsal bone
http://purl.obolibrary.org/obo/UBERON_0004389epiphysis of metatarsal bone
http://purl.obolibrary.org/obo/CHEBI_16651(S)-lactate
http://purl.obolibrary.org/obo/UBERON_0004391epiphysis of first metacarpal bone
http://purl.obolibrary.org/obo/UBERON_0004392epiphysis of second metacarpal bone
http://purl.obolibrary.org/obo/PATO_0000701smooth
http://purl.obolibrary.org/obo/PATO_0000700rough
http://purl.obolibrary.org/obo/CHEBI_28659phosphorus atom
http://purl.obolibrary.org/obo/CHEBI_33300pnictogen
http://purl.obolibrary.org/obo/GO_0006801superoxide metabolic process
http://purl.obolibrary.org/obo/GO_0072593reactive oxygen species metabolic process
http://purl.obolibrary.org/obo/CHEBI_53608O-(N-acetyl-alpha-D-galactosaminyl)-L-serine
http://purl.obolibrary.org/obo/CHEBI_84135L-serine derivative
http://purl.obolibrary.org/obo/UBERON_0004335proximal phalanx of pedal digit 4
http://purl.obolibrary.org/obo/UBERON_0004336proximal phalanx of pedal digit 5
http://purl.obolibrary.org/obo/UBERON_0004337distal phalanx of manual digit 1
http://purl.obolibrary.org/obo/UBERON_0004338proximal phalanx of manual digit 1
http://purl.obolibrary.org/obo/UBERON_0004339vault of skull
http://purl.obolibrary.org/obo/CHEBI_28689dehydroepiandrosterone
http://purl.obolibrary.org/obo/CHEBI_50402androstanoid
http://purl.obolibrary.org/obo/GO_0006836neurotransmitter transport
http://purl.obolibrary.org/obo/UBERON_0004330proximal phalanx of manual digit 4
http://purl.obolibrary.org/obo/UBERON_0014504proximal phalanx of digit 4
http://purl.obolibrary.org/obo/UBERON_0004331proximal phalanx of manual digit 5
http://purl.obolibrary.org/obo/UBERON_0014505proximal phalanx of digit 5
http://purl.obolibrary.org/obo/UBERON_0004332proximal phalanx of pedal digit 1
http://purl.obolibrary.org/obo/UBERON_0014501proximal phalanx of digit 1
http://purl.obolibrary.org/obo/UBERON_0004333proximal phalanx of pedal digit 2
http://purl.obolibrary.org/obo/UBERON_0004334proximal phalanx of pedal digit 3
HP:0003546Exercise intolerance
HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0003547Shoulder girdle muscle weakness
HP:0003542Increased serum pyruvate
HP:0004366Abnormality of glycolysis
http://purl.obolibrary.org/obo/UBERON_0004347limb bud
http://purl.obolibrary.org/obo/UBERON_0004348optic eminence
http://purl.obolibrary.org/obo/UBERON_0004340allantois
HP:0003551Difficulty climbing stairs
http://purl.obolibrary.org/obo/UBERON_0004341primitive streak
HP:0003550Predominantly lower limb lymphedema
http://purl.obolibrary.org/obo/UBERON_0004345trophectoderm
HP:0003557Increased variability in muscle fiber diameter
HP:0003559Muscle hyperirritability
HP:0003558Viral infection-induced rhabdomyolysis
HP:0003555Muscle fiber splitting
HP:0003554Type 2 muscle fiber atrophy
http://purl.obolibrary.org/obo/UBERON_0004357paired limb/fin bud
HP:0003562Abnormal metaphyseal vascular invasion
HP:0003561Birth length less than 3rd percentile
http://purl.obolibrary.org/obo/UBERON_0004353female inguinal canal
http://purl.obolibrary.org/obo/UBERON_0004354male inguinal canal
http://purl.obolibrary.org/obo/GO_0006859extracellular carbohydrate transport
http://purl.obolibrary.org/obo/GO_0006858extracellular transport
HP:0003568Decreased glucosephosphate isomerase level
HP:0003564Folate-dependent fragile site at Xq28
HP:0003566Increased serum prostaglandin E2
HP:0003565Elevated erythrocyte sedimentation rate
http://purl.obolibrary.org/obo/UBERON_0004368Reichert's cartilage
HP:0003571Propionicacidemia
HP:0003570Molybdenum cofactor deficiency
http://purl.obolibrary.org/obo/UBERON_0004362pharyngeal arch 1
HP:0003573Increased total bilirubin
HP:0003572Low plasma citrulline
HP:0011965Abnormal circulating citrulline concentration
http://purl.obolibrary.org/obo/CHEBI_28694copper atom
http://purl.obolibrary.org/obo/CHEBI_88184metal allergen
http://purl.obolibrary.org/obo/CHEBI_33366copper group element atom
http://purl.obolibrary.org/obo/UBERON_0004367Descemet's membrane
HP:0003575Increased intracellular sodium
HP:0003574Positive regitine blocking test
HP:0002640Hypertension associated with pheochromocytoma
HP:0000822Hypertension
HP:0003577Congenital onset
http://purl.obolibrary.org/obo/UBERON_0006957submandibular gland primordium epithelium
http://purl.obolibrary.org/obo/UBERON_0006956buccal mucosa
http://purl.obolibrary.org/obo/UBERON_0006953ejaculatory duct epithelium
http://purl.obolibrary.org/obo/CL_1000296epithelial cell of urethra
http://purl.obolibrary.org/obo/CL_1001320urethra cell
http://purl.obolibrary.org/obo/CL_1000298mesothelial cell of dura mater
http://purl.obolibrary.org/obo/UBERON_0006966coronary capillary
http://purl.obolibrary.org/obo/UBERON_0006965vascular cord
http://purl.obolibrary.org/obo/UBERON_0006960ovary stroma
http://purl.obolibrary.org/obo/UBERON_0004313distal phalanx of manual digit 4
http://purl.obolibrary.org/obo/UBERON_0004314distal phalanx of manual digit 5
http://purl.obolibrary.org/obo/UBERON_0004315distal phalanx of pedal digit 1
http://purl.obolibrary.org/obo/UBERON_0014483distal phalanx of digit 1
http://purl.obolibrary.org/obo/UBERON_0004316distal phalanx of pedal digit 2
http://purl.obolibrary.org/obo/UBERON_0004317distal phalanx of pedal digit 3
http://purl.obolibrary.org/obo/UBERON_0004318distal phalanx of pedal digit 4
http://purl.obolibrary.org/obo/UBERON_0014486distal phalanx of digit 4
http://purl.obolibrary.org/obo/UBERON_0004319distal phalanx of pedal digit 5
http://purl.obolibrary.org/obo/UBERON_0014487distal phalanx of digit 5
http://purl.obolibrary.org/obo/UBERON_0004311distal phalanx of manual digit 2
http://purl.obolibrary.org/obo/UBERON_0014484distal phalanx of digit 2
http://purl.obolibrary.org/obo/UBERON_0004312distal phalanx of manual digit 3
http://purl.obolibrary.org/obo/UBERON_0014485distal phalanx of digit 3
http://purl.obolibrary.org/obo/CL_1000272lung secretory cell
http://purl.obolibrary.org/obo/CL_1000271lung ciliated cell
http://purl.obolibrary.org/obo/UBERON_0004324middle phalanx of pedal digit 2
http://purl.obolibrary.org/obo/UBERON_0004325middle phalanx of pedal digit 3
http://purl.obolibrary.org/obo/UBERON_0004326middle phalanx of pedal digit 4
http://purl.obolibrary.org/obo/UBERON_0004327middle phalanx of pedal digit 5
http://purl.obolibrary.org/obo/UBERON_0004328proximal phalanx of manual digit 2
http://purl.obolibrary.org/obo/UBERON_0014502proximal phalanx of digit 2
http://purl.obolibrary.org/obo/UBERON_0004329proximal phalanx of manual digit 3
http://purl.obolibrary.org/obo/UBERON_0002234proximal phalanx of manus
http://purl.obolibrary.org/obo/UBERON_0014503proximal phalanx of digit 3
http://purl.obolibrary.org/obo/UBERON_0004320middle phalanx of manual digit 2
http://purl.obolibrary.org/obo/UBERON_0014488middle phalanx of digit 2
http://purl.obolibrary.org/obo/UBERON_0004321middle phalanx of manual digit 3
http://purl.obolibrary.org/obo/UBERON_0014489middle phalanx of digit 3
http://purl.obolibrary.org/obo/UBERON_0004322middle phalanx of manual digit 4
http://purl.obolibrary.org/obo/UBERON_0014490middle phalanx of digit 4
http://purl.obolibrary.org/obo/UBERON_0004323middle phalanx of manual digit 5
http://purl.obolibrary.org/obo/UBERON_0014491middle phalanx of digit 5
http://purl.obolibrary.org/obo/UBERON_0006916non-keratinized epithelium of tongue
http://purl.obolibrary.org/obo/UBERON_0006913lip epithelium
http://purl.obolibrary.org/obo/UBERON_0006919tongue squamous epithelium
http://purl.obolibrary.org/obo/PR_Q9QUM4signaling lymphocytic activation molecule (mouse)
http://purl.obolibrary.org/obo/PR_000001833SLAM family member 1
http://purl.obolibrary.org/obo/PR_Q9QUM0integrin alpha-IIb (mouse)
http://purl.obolibrary.org/obo/UBERON_0006925digestive system gland
http://purl.obolibrary.org/obo/UBERON_0006924stomach glandular epithelium
http://purl.obolibrary.org/obo/UBERON_0006923vagina squamous epithelium
http://purl.obolibrary.org/obo/UBERON_0006922cervix squamous epithelium
http://purl.obolibrary.org/obo/UBERON_0004801cervix epithelium
http://purl.obolibrary.org/obo/UBERON_0006955uterine epithelium
http://purl.obolibrary.org/obo/UBERON_0006921stomach squamous epithelium
http://purl.obolibrary.org/obo/UBERON_0006920esophagus squamous epithelium
http://purl.obolibrary.org/obo/UBERON_0006929glandular columnar epithelium
http://purl.obolibrary.org/obo/UBERON_0006938pinna surface epithelium
http://purl.obolibrary.org/obo/UBERON_0006936thymus subcapsular epithelium
http://purl.obolibrary.org/obo/UBERON_0006932vestibular epithelium
http://purl.obolibrary.org/obo/UBERON_0006934sensory epithelium
http://purl.obolibrary.org/obo/UBERON_0006931stomach glandular region mucosa
http://purl.obolibrary.org/obo/GO_0090195chemokine secretion
http://purl.obolibrary.org/obo/GO_0090198negative regulation of chemokine secretion
http://purl.obolibrary.org/obo/GO_0050710negative regulation of cytokine secretion
http://purl.obolibrary.org/obo/GO_0090197positive regulation of chemokine secretion
http://purl.obolibrary.org/obo/GO_0050715positive regulation of cytokine secretion
http://purl.obolibrary.org/obo/GO_0090196regulation of chemokine secretion
http://purl.obolibrary.org/obo/GO_0050707regulation of cytokine secretion
http://purl.obolibrary.org/obo/UBERON_0006948efferent duct epithelium
http://purl.obolibrary.org/obo/CHEBI_28616carbamic acid
http://purl.obolibrary.org/obo/UBERON_0006947male genital duct
http://purl.obolibrary.org/obo/UBERON_0006946efferent duct
http://purl.obolibrary.org/obo/PR_P01732-1T-cell surface glycoprotein CD8 alpha chain isoform 1 (human)
http://purl.obolibrary.org/obo/PR_000025403T-cell surface glycoprotein CD8 alpha chain isoform 1
http://purl.obolibrary.org/obo/PR_P01732T-cell surface glycoprotein CD8 alpha chain (human)
http://purl.obolibrary.org/obo/UBERON_0006905mandibular process mesenchyme
http://purl.obolibrary.org/obo/UBERON_0006909lumen of digestive tract
http://purl.obolibrary.org/obo/UBERON_0006906ala of nose
http://purl.obolibrary.org/obo/GO_0100001regulation of skeletal muscle contraction by action potential
http://purl.obolibrary.org/obo/GO_0001508action potential
http://purl.obolibrary.org/obo/PATO_0000651unfused from
http://purl.obolibrary.org/obo/GO_0006757ATP generation from ADP
http://purl.obolibrary.org/obo/GO_0006165nucleoside diphosphate phosphorylation
HP:0003502Mild short stature
http://purl.obolibrary.org/obo/PATO_0000648obstructed
HP:0003517Birth length greater than 97th percentile
http://purl.obolibrary.org/obo/PATO_0000646malformed
http://purl.obolibrary.org/obo/PATO_0001617deformed
http://purl.obolibrary.org/obo/PATO_0000647necrotic
http://purl.obolibrary.org/obo/PATO_0000644hyperplastic
http://purl.obolibrary.org/obo/CHEBI_142767alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc-yl group
http://purl.obolibrary.org/obo/PATO_0000645hypoplastic
http://purl.obolibrary.org/obo/PATO_0000642fused with
http://purl.obolibrary.org/obo/PATO_0000643herniated
http://purl.obolibrary.org/obo/PATO_0000640dysplastic
HP:0003513Reduced ratio of renal calcium clearance to creatinine clearance
HP:0003514Deficiency or absence of cytochrome b(-245)
HP:0003510Severe short stature
HP:0003508Proportionate short stature
HP:0003528Elevated calcitonin
HP:0003527Hyperprostaglandinuria
HP:0003529Parathormone-independent increased renal tubular calcium reabsorption
http://purl.obolibrary.org/obo/GO_0006783heme biosynthetic process
http://purl.obolibrary.org/obo/GO_0006779porphyrin-containing compound biosynthetic process
http://purl.obolibrary.org/obo/GO_0033014tetrapyrrole biosynthetic process
http://purl.obolibrary.org/obo/GO_0018130heterocycle biosynthetic process
HP:0003524Decreased methionine synthase activity
HP:0003526Orotic acid crystalluria
HP:0003538Increased serum iduronate sulfatase level
http://purl.obolibrary.org/obo/PATO_0000665high brightness
http://purl.obolibrary.org/obo/GO_0006776vitamin A metabolic process
http://purl.obolibrary.org/obo/GO_0006775fat-soluble vitamin metabolic process
http://purl.obolibrary.org/obo/GO_0001523retinoid metabolic process
http://purl.obolibrary.org/obo/GO_0016101diterpenoid metabolic process
HP:0003534Reduced xanthine dehydrogenase level
HP:0003537Hypouricemia
HP:0004369Decreased purine level
HP:0003536Decreased fumarate hydratase activity
HP:0003530Glutaric acidemia
HP:0003533Reduced acetaldehyde dehydrogenase level
http://purl.obolibrary.org/obo/PR_P20489high affinity immunoglobulin epsilon receptor subunit alpha (mouse)
HP:0003532Ornithinuria
http://purl.obolibrary.org/obo/PATO_0000695synchronous
http://purl.obolibrary.org/obo/PATO_0000692heterochronic
http://purl.obolibrary.org/obo/UBERON_0004294glomerular capillary endothelium
http://purl.obolibrary.org/obo/UBERON_0004295sympathetic nerve trunk
http://purl.obolibrary.org/obo/UBERON_0004296respiratory system lymphatic vessel smooth muscle
http://purl.obolibrary.org/obo/UBERON_0004297respiratory system blood vessel smooth muscle
http://purl.obolibrary.org/obo/UBERON_0004290dermomyotome
http://purl.obolibrary.org/obo/UBERON_0016888transitional anatomical structure
http://purl.obolibrary.org/obo/UBERON_0004291heart rudiment
http://purl.obolibrary.org/obo/GO_0016125sterol metabolic process
http://purl.obolibrary.org/obo/UBERON_0004292cardiac skeleton
http://purl.obolibrary.org/obo/UBERON_0004293parasympathetic nerve
http://purl.obolibrary.org/obo/PATO_0000688asynchronous
http://purl.obolibrary.org/obo/PATO_0000689continuous
http://purl.obolibrary.org/obo/PATO_0000690discontinuous
http://purl.obolibrary.org/obo/PR_P19437B-lymphocyte antigen CD20 (mouse)
http://purl.obolibrary.org/obo/PR_000001289membrane-spanning 4-domains subfamily A member 1
http://purl.obolibrary.org/obo/GO_0016137glycoside metabolic process
http://purl.obolibrary.org/obo/UBERON_0004258back blood vessel
http://purl.obolibrary.org/obo/UBERON_0004259lower arm blood vessel
HP:0001042High axial triradius
http://purl.obolibrary.org/obo/UBERON_0004250upper arm bone
HP:0001043Prominent scalp veins
HP:0001040Multiple pterygia
http://purl.obolibrary.org/obo/UBERON_0004252hindlimb stylopod muscle
HP:0001041Facial erythema
http://purl.obolibrary.org/obo/UBERON_0004257upper leg blood vessel
HP:0001049Absent dorsal skin creases over affected joints
HP:0001046Intermittent jaundice
HP:0000952Jaundice
http://purl.obolibrary.org/obo/UBERON_0004262upper leg skin
HP:0001054Numerous nevi
http://purl.obolibrary.org/obo/UBERON_0004263upper arm skin
http://purl.obolibrary.org/obo/UBERON_0004264lower leg skin
http://purl.obolibrary.org/obo/UBERON_0004265outflow tract myocardium
http://purl.obolibrary.org/obo/UBERON_0004266upper leg connective tissue
HP:0001050Plethora
http://purl.obolibrary.org/obo/UBERON_0004267back connective tissue
http://purl.obolibrary.org/obo/UBERON_0004268lower arm connective tissue
HP:0001058Poor wound healing
HP:0001055Erysipelas
http://purl.obolibrary.org/obo/UBERON_0004260upper arm blood vessel
HP:0001056Milia
http://purl.obolibrary.org/obo/CL_1000303fibroblast of areolar connective tissue
http://purl.obolibrary.org/obo/CL_1000306fibroblast of tunica adventitia of artery
http://purl.obolibrary.org/obo/CL_1000307fibroblast of dense regular elastic tissue
http://purl.obolibrary.org/obo/PR_P32248C-C chemokine receptor type 7 (human)
http://purl.obolibrary.org/obo/PR_000001203C-C chemokine receptor type 7
http://purl.obolibrary.org/obo/PR_P32246C-C chemokine receptor type 1 (human)
http://purl.obolibrary.org/obo/UBERON_0004273cartilaginous joint suture
HP:0001065Skin striae
HP:0100679Lack of skin elasticity
http://purl.obolibrary.org/obo/UBERON_0004274lateral ventricle choroid plexus epithelium
HP:0001062Atypical nevus
http://purl.obolibrary.org/obo/UBERON_0004275third ventricle choroid plexus epithelium
HP:0001063Acrocyanosis
http://purl.obolibrary.org/obo/UBERON_0004276fourth ventricle choroid plexus epithelium
HP:0001060Axillary pterygium
HP:0001069Episodic hyperhidrosis
http://purl.obolibrary.org/obo/UBERON_0004271outflow tract pericardium
http://purl.obolibrary.org/obo/UBERON_0002407pericardium
HP:0001076Glabellar hemangioma
HP:0001073Cigarette-paper scars
HP:0001075Atrophic scars
HP:0000987Atypical scarring of skin
HP:0001074Atypical nevi in non-sun exposed areas
HP:0001071Angiokeratoma corporis diffusum
http://purl.obolibrary.org/obo/UBERON_0004288skeleton
http://purl.obolibrary.org/obo/CHEBI_16541protein polypeptide chain
http://purl.obolibrary.org/obo/GO_0090027negative regulation of monocyte chemotaxis
http://purl.obolibrary.org/obo/GO_0090026positive regulation of monocyte chemotaxis
http://purl.obolibrary.org/obo/GO_0090025regulation of monocyte chemotaxis
http://purl.obolibrary.org/obo/UBERON_0006877vasculature of liver
HP:0001008Accumulation of melanosomes in melanocytes
http://purl.obolibrary.org/obo/UBERON_0004214upper leg nerve
http://purl.obolibrary.org/obo/UBERON_0004215back nerve
http://purl.obolibrary.org/obo/UBERON_0004216lower arm nerve
http://purl.obolibrary.org/obo/UBERON_0004217upper arm nerve
http://purl.obolibrary.org/obo/UBERON_0004218lower leg nerve
http://purl.obolibrary.org/obo/UBERON_0004219urethra smooth muscle layer
http://purl.obolibrary.org/obo/GO_0006721terpenoid metabolic process
http://purl.obolibrary.org/obo/GO_0006720isoprenoid metabolic process
HP:0025035Abnormal proerythroblast morphology
HP:0025037Hypothalamic gliosis
HP:0002171Gliosis
HP:0025038Intratesticular abscess
HP:0025039Basal ganglia edema
http://purl.obolibrary.org/obo/UBERON_0006875embryonic handplate
HP:0001004Lymphedema
http://purl.obolibrary.org/obo/UBERON_0006872handplate apical ectodermal ridge
HP:0025030Enteric neuronal degeneration
http://purl.obolibrary.org/obo/UBERON_0006871embryonic footplate
http://purl.obolibrary.org/obo/UBERON_0010130embryonic autopod plate
HP:0001003Multiple lentigines
HP:0003665Amyotrophy of the musculature of the pelvis
HP:0008988Pelvic girdle muscle atrophy
HP:0025034Abnormal morphology of erythroid progenitor cell
http://purl.obolibrary.org/obo/UBERON_0004227kidney pelvis smooth muscle
HP:0025024Megarectum
HP:0025026H-type rectovestibular fistula
HP:0025025Rectovestibular fistula
HP:0025027Osteoma cutis
http://purl.obolibrary.org/obo/UBERON_0004222stomach smooth muscle
http://purl.obolibrary.org/obo/UBERON_0004223vagina smooth muscle
http://purl.obolibrary.org/obo/UBERON_0004224muscular coat of vas deferens
HP:0001017Anemic pallor
HP:0000980Pallor
HP:0003678Rapidly progressive
HP:0003677Slow progression
HP:0025020Elevated prostate-specific antigen level
HP:0001013Eruptive xanthomas
HP:0001014Angiokeratoma
HP:0025022Decreased erythrocyte sedimentation rate
HP:0025021Abnormal erythrocyte sedimentation rate
HP:0003676Progressive
HP:0025023Rectal atresia
http://purl.obolibrary.org/obo/CL_0001008Kit and Sca1-positive hematopoietic stem cell
http://purl.obolibrary.org/obo/UBERON_0004236arteriole smooth muscle
http://purl.obolibrary.org/obo/UBERON_0004238spleen smooth muscle
http://purl.obolibrary.org/obo/UBERON_0004239small intestine smooth muscle
HP:0025013Decerebrate rigidity
HP:0025014Subcutaneous spheroids
HP:0003680Nonprogressive
http://purl.obolibrary.org/obo/UBERON_0004230urinary bladder neck smooth muscle
http://purl.obolibrary.org/obo/UBERON_0004228urinary bladder smooth muscle
HP:0003683Large beaked nose
HP:0003682Variable progression rate
HP:0003679Pace of progression
HP:0025016Abnormal capillary morphology
http://purl.obolibrary.org/obo/UBERON_0004232lymphatic vessel smooth muscle
HP:0025017Capillary fragility
HP:0025019Arterial rupture
http://purl.obolibrary.org/obo/UBERON_0004235mammary gland smooth muscle
HP:0003689Multiple mitochondrial DNA deletions
HP:0009141Depletion of mitochondrial DNA in muscle tissue
HP:0003688Cytochrome C oxidase-negative muscle fibers
HP:0001029Poikiloderma
HP:0001026Penetrating foot ulcers
HP:0001027Soft, doughy skin
HP:0000977Soft skin
HP:0001024Skin dimple over apex of long bone angulation
HP:0025010Foveal atrophy
HP:0001022Albinism
HP:0025011Pyriform aperture stenosis
HP:0003687Centrally nucleated skeletal muscle fibers
HP:0025012Status cribrosum
http://purl.obolibrary.org/obo/UBERON_0004240gall bladder smooth muscle
HP:0003691Scapular winging
HP:0025004Hallux rigidus
HP:0003694Late-onset proximal muscle weakness
HP:0025005Thickening of glomerular capillary wall
http://purl.obolibrary.org/obo/UBERON_0004242bronchus smooth muscle
http://purl.obolibrary.org/obo/UBERON_0004243prostate gland smooth muscle
HP:0025006Abnormal glomerular capillary morphology
HP:0025007Ectopic fovea
http://purl.obolibrary.org/obo/UBERON_0004245oviduct smooth muscle
HP:0025008Tracheal tug on inspiration
http://purl.obolibrary.org/obo/UBERON_0004246outflow tract smooth muscle
HP:0025009Forward slanting upper incisors
HP:0001039Atheroeruptive xanthoma
HP:0001038Warfarin-induced skin necrosis
HP:0003696Absent epiphysis of the distal phalanx of the 5th finger
HP:0009198Abnormality of the epiphysis of the distal phalanx of the 5th finger
HP:0009382Absent epiphyses of the 5th finger
HP:0009152Abnormality of the epiphyses of the 5th finger
HP:0003698Difficulty standing
HP:0001033Facial flushing after alcohol intake
HP:0031284Flushing
HP:0003697Scapuloperoneal amyotrophy
http://purl.obolibrary.org/obo/UBERON_0006839dorsal ramus of spinal nerve
http://purl.obolibrary.org/obo/UBERON_0006838ventral ramus of spinal nerve
http://purl.obolibrary.org/obo/UBERON_0006833lumen of trachea
HP:0025080Orthokeratotic hyperkeratosis
HP:0025081Darier's sign
HP:0025079Pancreatic abscess
HP:0025072Prominent U wave
HP:0025073Exercise-induced U wave inversion
HP:0025071U wave inversion
HP:0025075Increased QRS voltage
HP:0025077Decreased QRS voltage
HP:0025078Electrical alternans
HP:0025076Abnormal QRS voltage
HP:0025074Abnormal QRS complex
http://purl.obolibrary.org/obo/UBERON_0006849scapula
http://purl.obolibrary.org/obo/UBERON_0006847cerebellar commissure
http://purl.obolibrary.org/obo/UBERON_0006844cusp of tooth
HP:0025070Abnormal U wave
HP:0025069Concomitant strabismus
HP:0025060Multifocal splenic abscess
HP:0025061Unifocal splenic abscess
HP:0025062Geophagia
HP:0025063Scaphoid abdomen
HP:0025064Thalamic hemorrhage
HP:0025066Decreased mean corpuscular volume
http://purl.obolibrary.org/obo/UBERON_0006855muscular coat of ureter
HP:0025058Hypothalamic atrophy
HP:0025059Splenic abscess
HP:0025050Elevated brain creatine level by MRS
HP:0025051Reduced brain creatine level by MRS
HP:0025053Elevated brain N-acetyl aspartate level by MRS
HP:0025052Abnormal brain N-acetyl aspartate level by MRS
http://purl.obolibrary.org/obo/CL_1000398endothelial cell of hepatic sinusoid
http://purl.obolibrary.org/obo/CL_0002262endothelial cell of sinusoid
http://purl.obolibrary.org/obo/UBERON_0006868seminal fluid secreting gland
http://purl.obolibrary.org/obo/UBERON_0005399male reproductive gland
http://purl.obolibrary.org/obo/UBERON_0006867anal part of perineum
http://purl.obolibrary.org/obo/UBERON_0006866terminal part of digestive tract
http://purl.obolibrary.org/obo/UBERON_0004203cortical collecting duct
http://purl.obolibrary.org/obo/UBERON_0004205inner medullary collecting duct
http://purl.obolibrary.org/obo/UBERON_0004208nephrogenic mesenchyme
http://purl.obolibrary.org/obo/UBERON_0004209renal vesicle
HP:0025046Reduced brain lactate level by MRS
HP:0025048Reduced brain choline level by MRS
HP:0025047Abnormal brain choline level by MRS
HP:0025049Abnormal brain creatine level by MRS
http://purl.obolibrary.org/obo/UBERON_0004200kidney pyramid
http://purl.obolibrary.org/obo/UBERON_0006864distal metaphysis of femur
http://purl.obolibrary.org/obo/UBERON_0004377distal metaphysis
http://purl.obolibrary.org/obo/UBERON_0006863proximal metaphysis of femur
http://purl.obolibrary.org/obo/UBERON_0004378proximal metaphysis
http://purl.obolibrary.org/obo/UBERON_0006865metaphysis of femur
http://purl.obolibrary.org/obo/UBERON_0006862diaphysis of femur
HP:0025040Thalamic edema
http://purl.obolibrary.org/obo/UBERON_0006861diaphysis proper
HP:0025041Thalamic calcification
HP:0025043Enlarged mesenteric lymph node
HP:0025042Abnormality of mesenteric lymph nodes
HP:0025044Lung abscess
HP:0025045Abnormal brain lactate level by MRS
HP:0001084Corneal arcus
HP:0001085Papilledema
HP:0001082Cholecystitis
HP:0001081Cholelithiasis
HP:0001088Brushfield spots
HP:0001089Iris atrophy
http://purl.obolibrary.org/obo/UBERON_0006801proximal head of humerus
HP:0001097Keratoconjunctivitis sicca
HP:0001095Hypertensive retinopathy
HP:0001096Keratoconjunctivitis
HP:0001093Optic nerve dysplasia
HP:0001094Iridocyclitis
HP:0012122Anterior uveitis
HP:0001092Absent lacrimal punctum
http://purl.obolibrary.org/obo/CHEBI_16523D-serine
http://purl.obolibrary.org/obo/CHEBI_17822serine
HP:0001099Fundus atrophy
http://purl.obolibrary.org/obo/CHEBI_16526carbon dioxide
http://purl.obolibrary.org/obo/CHEBI_23014carbon oxide
http://purl.obolibrary.org/obo/CHEBI_25701organic oxide
http://purl.obolibrary.org/obo/UBERON_0006815areolar connective tissue
http://purl.obolibrary.org/obo/UBERON_0006813nasal skeleton
http://purl.obolibrary.org/obo/UBERON_0006812mental foramen
http://purl.obolibrary.org/obo/UBERON_0006810olecranon
HP:0025093Peripapillary exudate
HP:0025094Disciform macular scar
HP:0200056Macular scar
HP:0025096Paroxysmal sneezing
HP:0025095Sneeze
HP:0025097Eyelid myoclonus
HP:0025098Dysgenesis of the hypothalamus
HP:0012286Abnormal hypothalamus morphology
HP:0025099Dysgenesis of the thalamus
http://purl.obolibrary.org/obo/UBERON_0006822proximal epiphysis of ulna
http://purl.obolibrary.org/obo/UBERON_0004386epiphysis of ulna
HP:0025083Elevated dermal desmosine content
http://purl.obolibrary.org/obo/GO_0090068positive regulation of cell cycle process
HP:0025086Bloody mucoid diarrhea
HP:0025085Bloody diarrhea
HP:0025087Delayed recoil upon stretching of skin
HP:0025088Onychomadesis
HP:0025089Feculent vomiting
HP:0002013Vomiting
HP:0002017Nausea and vomiting
http://purl.obolibrary.org/obo/CHEBI_77450dicarboxylic acid monoamide(1-)
http://purl.obolibrary.org/obo/GO_0031667response to nutrient levels
http://purl.obolibrary.org/obo/GO_0016052carbohydrate catabolic process
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6149ITGAM (human)
http://purl.obolibrary.org/obo/GO_0004095CPT1A,B transfers PALM to CAR
http://purl.obolibrary.org/obo/GO_00040962 H2O2 => O2 + 2 H2O
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6138ITGA2B (human)
http://purl.obolibrary.org/obo/PR_P09923intestinal-type alkaline phosphatase (human)
http://purl.obolibrary.org/obo/PR_000021259renin isoform 1, signal peptide removed form
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6162ITGB7 (human)
http://purl.obolibrary.org/obo/CL_0001028CD7-positive lymphoid progenitor cell
http://purl.obolibrary.org/obo/CL_0001026CD34-positive, CD38-positive common myeloid progenitor
http://purl.obolibrary.org/obo/CL_0001027CD7-negative lymphoid progenitor cell
http://purl.obolibrary.org/obo/CL_0001012CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor
http://purl.obolibrary.org/obo/CL_0001024CD34-positive, CD38-negative hematopoietic stem cell
http://purl.obolibrary.org/obo/CL_0000037hematopoietic stem cell
http://purl.obolibrary.org/obo/CL_0001025Kit-positive, Sca1-positive common lymphoid progenitor
http://purl.obolibrary.org/obo/PATO_0000770uncoordinated
HP:0003623Neonatal onset
HP:0003621Juvenile onset
http://purl.obolibrary.org/obo/PATO_0000769coordinated
HP:0003637Reduced 4-Hydroxyphenylpyruvate dioxygenase level
HP:0003639Elevated urinary epinephrine
http://purl.obolibrary.org/obo/PATO_0000763paralysed
http://purl.obolibrary.org/obo/PATO_0000761decreased behavioural activity
http://purl.obolibrary.org/obo/PATO_0000760increased behavioural activity
http://purl.obolibrary.org/obo/PATO_0001707behavioural active
http://purl.obolibrary.org/obo/CL_0001023Kit-positive, CD34-positive common myeloid progenitor
http://purl.obolibrary.org/obo/CL_0001030CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor
http://purl.obolibrary.org/obo/CL_0001021CD34-positive, CD38-positive common lymphoid progenitor
http://purl.obolibrary.org/obo/CL_0000051common lymphoid progenitor
http://purl.obolibrary.org/obo/CL_0000995CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor
HP:0003635Loss of subcutaneous adipose tissue in limbs
HP:0003648Lacticaciduria
HP:0003645Prolonged partial thromboplastin time
http://purl.obolibrary.org/obo/CL_0001055CD14-positive, CD16-low monocyte
http://purl.obolibrary.org/obo/CL_0002393intermediate monocyte
http://purl.obolibrary.org/obo/CL_0002397CD14-positive, CD16-positive monocyte
http://purl.obolibrary.org/obo/CHEBI_16498N-acylneuraminic acid
HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect
HP:0003646Bicarbonaturia
http://purl.obolibrary.org/obo/CL_0001054CD14-positive monocyte
http://purl.obolibrary.org/obo/CL_0000576monocyte
http://purl.obolibrary.org/obo/CL_0000766myeloid leukocyte
HP:0003641Hemoglobinuria
HP:0003640Foam cells in visceral organs and CNS
HP:0003643Sulfite oxidase deficiency
http://purl.obolibrary.org/obo/CL_0001050effector CD8-positive, alpha-beta T cell
http://purl.obolibrary.org/obo/CL_0000625CD8-positive, alpha-beta T cell
HP:0003642Type I transferrin isoform profile
http://purl.obolibrary.org/obo/CL_0001035bone cell
http://purl.obolibrary.org/obo/CL_0001044effector CD4-positive, alpha-beta T cell
http://purl.obolibrary.org/obo/CL_0000911effector T cell
http://purl.obolibrary.org/obo/CL_0000624CD4-positive, alpha-beta T cell
http://purl.obolibrary.org/obo/CL_0000791mature alpha-beta T cell
http://purl.obolibrary.org/obo/CL_0002419mature T cell
http://purl.obolibrary.org/obo/CL_0000789alpha-beta T cell
HP:0003656Decreased beta-glucocerebrosidase level
HP:0003655Reduced level of N-acetylglucosaminyltransferase II
HP:0003658Hypomethioninemia
HP:0003657Granular osmiophilic deposits (GROD) in cells
HP:0003652Recurrent myoglobinuria
HP:0003654Reduced dihydropyrimidine dehydrogenase level
http://purl.obolibrary.org/obo/CL_0001068ILC1
http://purl.obolibrary.org/obo/GO_0006687glycosphingolipid metabolic process
http://purl.obolibrary.org/obo/GO_0006664glycolipid metabolic process
http://purl.obolibrary.org/obo/GO_1903509liposaccharide metabolic process
http://purl.obolibrary.org/obo/UBERON_0004177hemopoietic organ
http://purl.obolibrary.org/obo/UBERON_0004178aorta smooth muscle tissue
http://purl.obolibrary.org/obo/UBERON_0004695arterial system smooth muscle
http://purl.obolibrary.org/obo/UBERON_0004237blood vessel smooth muscle
http://purl.obolibrary.org/obo/CL_1000410myocyte of atrioventricular node
http://purl.obolibrary.org/obo/CL_0002072nodal myocyte
http://purl.obolibrary.org/obo/CL_0002086specialized cardiac myocyte
http://purl.obolibrary.org/obo/CL_0000746cardiac muscle cell
http://purl.obolibrary.org/obo/CL_2000022cardiac septum native cell
http://purl.obolibrary.org/obo/CL_1000412endothelial cell of arteriole
http://purl.obolibrary.org/obo/CL_0001059common myeloid progenitor, CD34-positive
http://purl.obolibrary.org/obo/CL_0000049common myeloid progenitor
http://purl.obolibrary.org/obo/CL_1000414endothelial cell of venule
http://purl.obolibrary.org/obo/CL_1000413endothelial cell of artery
http://purl.obolibrary.org/obo/GO_0006672ceramide metabolic process
http://purl.obolibrary.org/obo/GO_0006665sphingolipid metabolic process
http://purl.obolibrary.org/obo/GO_0006643membrane lipid metabolic process
http://purl.obolibrary.org/obo/CL_1000415epithelial cell of gall bladder
http://purl.obolibrary.org/obo/UBERON_0004184prostate gland stroma
http://purl.obolibrary.org/obo/UBERON_0004189glomerular endothelium
http://purl.obolibrary.org/obo/UBERON_0004188glomerular epithelium
http://purl.obolibrary.org/obo/CL_0001066erythroid progenitor cell, mammalian
http://purl.obolibrary.org/obo/CL_0000038erythroid progenitor cell
http://purl.obolibrary.org/obo/CL_0000764erythroid lineage cell
http://purl.obolibrary.org/obo/CL_0000763myeloid cell
http://purl.obolibrary.org/obo/CL_0000839myeloid lineage restricted progenitor cell
http://purl.obolibrary.org/obo/CL_0002031hematopoietic lineage restricted progenitor cell
http://purl.obolibrary.org/obo/CL_0001067group 1 innate lymphoid cell
http://purl.obolibrary.org/obo/CL_0001064malignant cell
http://purl.obolibrary.org/obo/CL_0001065innate lymphoid cell
http://purl.obolibrary.org/obo/UBERON_0004180mammary gland fat
http://purl.obolibrary.org/obo/CL_0001060hematopoietic oligopotent progenitor cell, lineage-negative
http://purl.obolibrary.org/obo/CL_0002032hematopoietic oligopotent progenitor cell
http://purl.obolibrary.org/obo/UBERON_0004182mammary gland cord
http://purl.obolibrary.org/obo/UBERON_0005154epithelial cord
http://purl.obolibrary.org/obo/UBERON_0004183placental labyrinth blood vessel
http://purl.obolibrary.org/obo/UBERON_0022358placenta blood vessel
HP:0003609Foam cells with lamellar inclusion bodies
HP:0003651Foam cells
HP:00036074-Hydroxyphenylacetic aciduria
HP:0003606Absent urinary urothione
http://purl.obolibrary.org/obo/UBERON_0004198comma-shaped body
http://purl.obolibrary.org/obo/GO_0043648dicarboxylic acid metabolic process
http://purl.obolibrary.org/obo/UBERON_0004199S-shaped body
http://purl.obolibrary.org/obo/UBERON_0004190renal glomerulus vasculature
HP:0003616Premature separation of centromeric heterochromatin
HP:0200024Premature chromatid separation
http://purl.obolibrary.org/obo/GO_0006693prostaglandin metabolic process
http://purl.obolibrary.org/obo/GO_0006692prostanoid metabolic process
http://purl.obolibrary.org/obo/GO_0006690icosanoid metabolic process
http://purl.obolibrary.org/obo/GO_0033559unsaturated fatty acid metabolic process
http://purl.obolibrary.org/obo/GO_0006631fatty acid metabolic process
http://purl.obolibrary.org/obo/GO_0004031AOX1 oxidises PXL to PDXate
http://purl.obolibrary.org/obo/GO_0031643positive regulation of myelination
http://purl.obolibrary.org/obo/GO_0031642negative regulation of myelination
http://purl.obolibrary.org/obo/GO_0031641regulation of myelination
http://purl.obolibrary.org/obo/GO_0004035ALPI dimer hydrolyses phosphate monoesters
http://purl.obolibrary.org/obo/GO_0006699bile acid biosynthetic process
http://purl.obolibrary.org/obo/GO_0006694steroid biosynthetic process
http://purl.obolibrary.org/obo/GO_0008610lipid biosynthetic process
http://purl.obolibrary.org/obo/GO_0008206bile acid metabolic process
HP:0003612Positive ferric chloride test
HP:0003614Trimethylaminuria
HP:0003610Fibroblast metachromasia
HP:0003653Cellular metachromasia
http://purl.obolibrary.org/obo/CL_1000444mesothelial cell of anterior chamber of eye
http://purl.obolibrary.org/obo/CL_1000448epithelial cell of sweat gland
http://purl.obolibrary.org/obo/CL_0002308epithelial cell of skin gland
http://purl.obolibrary.org/obo/CL_0000362epidermal cell
http://purl.obolibrary.org/obo/CL_0002159general ecto-epithelial cell
http://purl.obolibrary.org/obo/CL_0002077ecto-epithelial cell
http://purl.obolibrary.org/obo/UBERON_0004139cardiogenic plate
http://purl.obolibrary.org/obo/UBERON_0004130cerebellar layer
http://purl.obolibrary.org/obo/UBERON_0016548central nervous system gray matter layer
HP:0025113Misophonia
HP:0025114Hypergranulosis
HP:0025115Civatte bodies
http://purl.obolibrary.org/obo/UBERON_0004133salivatory nucleus
HP:0025116Fetal distress
HP:0025117Rete ridge flattening
HP:0025119Violet lip discoloration
HP:0025118Lip discoloration
HP:0001169Broad palm
http://purl.obolibrary.org/obo/CL_1000450epithelial cell of glomerular capsule
HP:0025110Placoid macular lesion
HP:0001166Arachnodactyly
http://purl.obolibrary.org/obo/CL_1000456mesothelial cell of parietal peritoneum
http://purl.obolibrary.org/obo/CL_1000457mesothelial cell of visceral peritoneum
HP:0025109Reduced red cell pyruvate kinase level
http://purl.obolibrary.org/obo/UBERON_0004148cardiac vein
http://purl.obolibrary.org/obo/UBERON_0005194thoracic vein
http://purl.obolibrary.org/obo/CHEBI_28875tetradecanoic acid
http://purl.obolibrary.org/obo/CHEBI_26216potassium atom
http://purl.obolibrary.org/obo/CHEBI_26217potassium molecular entity
http://purl.obolibrary.org/obo/UBERON_0004140primary heart field
HP:0025101Dysgenesis of the hippocampus
http://purl.obolibrary.org/obo/UBERON_0004141heart tube
HP:0025102Dysgenesis of the basal ganglia
HP:0025103Umbilicated nodule
HP:0025105Nevus anemicus
HP:0001171Split hand
HP:0025106Nevus roseus
HP:0025107Cutis marmorata telangiectatica congenita
HP:0025108Angioma serpentinum
http://purl.obolibrary.org/obo/GO_0090368regulation of ornithine metabolic process
HP:0001178Ulnar claw
HP:0001176Large hands
HP:0001177Preaxial hand polydactyly
http://purl.obolibrary.org/obo/PATO_0000955fertile
http://purl.obolibrary.org/obo/PATO_0000950grey
http://purl.obolibrary.org/obo/CL_1000428stem cell of epidermis
http://purl.obolibrary.org/obo/CL_0000723somatic stem cell
HP:0001181Adducted thumb
HP:0001182Tapered finger
HP:0100807Long fingers
HP:0001180Hand oligodactyly
HP:0001188Hand clenching
http://purl.obolibrary.org/obo/CL_1000432conjunctival epithelial cell
http://purl.obolibrary.org/obo/PATO_0000946oblong
http://purl.obolibrary.org/obo/CL_1000434epithelial cell of external acoustic meatus
http://purl.obolibrary.org/obo/PATO_0000941vacuolated
http://purl.obolibrary.org/obo/CL_1000436epithelial cell of lacrimal sac
http://purl.obolibrary.org/obo/CL_0000068duct epithelial cell
HP:0001196Short umbilical cord
HP:0001195Single umbilical artery
HP:0001193Ulnar deviation of the hand or of fingers of the hand
http://purl.obolibrary.org/obo/CHEBI_41865sebacic acid
http://purl.obolibrary.org/obo/UBERON_0004160proepicardium
http://purl.obolibrary.org/obo/UBERON_0004161septum transversum
http://purl.obolibrary.org/obo/UBERON_0006757lateral lingual swelling
http://purl.obolibrary.org/obo/UBERON_0006756median lingual swelling
HP:0001129Large central visual field defect
http://purl.obolibrary.org/obo/GO_0004423Defective IDS does not hydrolyse Heparan sulfate chain(5)
http://purl.obolibrary.org/obo/GO_0008484sulfuric ester hydrolase activity
HP:0025156Dependency on intravenous nutrition
HP:0025157Increased urinary sedoheptulose
HP:0003782Eunuchoid habitus
HP:0003781Excessive salivation
HP:0100755Abnormality of salivation
HP:0001128Trichiasis
HP:0003787Type 1 and type 2 muscle fiber minicore regions
http://purl.obolibrary.org/obo/CL_1000490mesothelial cell of peritoneum
HP:0025150Hypoganglionosis
HP:0001125Transient unilateral blurring of vision
HP:0000622Blurred vision
HP:0003789Minicore myopathy
HP:0025151Ganglioneuromatosis
HP:0001126Cryptophthalmos
HP:0025152Poor visual behavior for age
http://purl.obolibrary.org/obo/CL_1000492mesothelial cell of parietal pleura
HP:0003784Type 1 collagen overmodification
http://purl.obolibrary.org/obo/GO_0090331negative regulation of platelet aggregation
HP:0003783Externally rotated/abducted legs
HP:0025153Transient
http://purl.obolibrary.org/obo/CL_1000494nephron tubule epithelial cell
HP:0025154Portosystemic collateral veins
HP:0003785Decreased CSF homovanillic acid
http://purl.obolibrary.org/obo/CL_1000493mesothelial cell of visceral pleura
http://purl.obolibrary.org/obo/CL_0000082epithelial cell of lung
http://purl.obolibrary.org/obo/CL_1000491mesothelial cell of pleura
http://purl.obolibrary.org/obo/PATO_0000969dwarf-like
http://purl.obolibrary.org/obo/PR_P20138myeloid cell surface antigen CD33 (human)
http://purl.obolibrary.org/obo/PATO_0000967undulate
http://purl.obolibrary.org/obo/PATO_0000963opaque
http://purl.obolibrary.org/obo/UBERON_0006767head of femur
http://purl.obolibrary.org/obo/PATO_0000964transparent
http://purl.obolibrary.org/obo/PATO_0000957opacity
http://purl.obolibrary.org/obo/UBERON_0004104hairline
http://purl.obolibrary.org/obo/UBERON_0004105subungual region
http://purl.obolibrary.org/obo/UBERON_0004106crus of ear
http://purl.obolibrary.org/obo/UBERON_0004108clivus of occipital bone
http://purl.obolibrary.org/obo/UBERON_0004109cortex of humerus
http://purl.obolibrary.org/obo/UBERON_0004269upper arm connective tissue
HP:0003791Deposits immunoreactive to beta-amyloid protein
HP:0025145Rigors
HP:0025146Foveal degeneration
HP:0025147Beaten bronze macular sheen
HP:0025148Dark choroid
HP:0025149Atrophic muscularis propria
http://purl.obolibrary.org/obo/UBERON_0004100renal collecting system
http://purl.obolibrary.org/obo/UBERON_0004101nasolabial region
http://purl.obolibrary.org/obo/UBERON_0004103alveolar ridge
HP:0003799Marked delay in bone age
HP:0001139Choroideremia
HP:0003798Nemaline bodies
HP:0100303Muscle fiber cytoplasmatic inclusion bodies
http://purl.obolibrary.org/obo/UBERON_0006763epithelium of conjunctiva
http://purl.obolibrary.org/obo/UBERON_0010304non-keratinized stratified squamous epithelium
http://purl.obolibrary.org/obo/GO_0090327negative regulation of locomotion involved in locomotory behavior
HP:0001136Retinal arteriolar tortuosity
http://purl.obolibrary.org/obo/GO_0090326positive regulation of locomotion involved in locomotory behavior
http://purl.obolibrary.org/obo/GO_0090325regulation of locomotion involved in locomotory behavior
HP:0001137Alternating esotropia
HP:0025140Decreased serum estrone
http://purl.obolibrary.org/obo/UBERON_0006762suspensory ligament of lens
http://purl.obolibrary.org/obo/UBERON_0006761corneo-scleral junction
HP:0025141Gingival calcification
HP:0001135Chorioretinal dystrophy
HP:0025143Chills
http://purl.obolibrary.org/obo/GO_0090322regulation of superoxide metabolic process
HP:0025144Shivering
http://purl.obolibrary.org/obo/GO_0016416Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs
http://purl.obolibrary.org/obo/UBERON_0004115blood vessel of tympanic cavity
http://purl.obolibrary.org/obo/UBERON_0004116nerve of tympanic cavity
http://purl.obolibrary.org/obo/UBERON_0004117pharyngeal pouch
http://purl.obolibrary.org/obo/UBERON_0004118vasculature of iris
HP:0001141Severely reduced visual acuity
HP:0025134Increased serum estradiol
HP:0025136Increased serum estriol
HP:0025137Decreased serum estriol
HP:0025135Abnormal serum estriol
http://purl.obolibrary.org/obo/UBERON_0004110midnasal cavity
HP:0001140Limbal dermoid
HP:0025139Increased serum estrone
HP:0025138Abnormal serum estrone
http://purl.obolibrary.org/obo/UBERON_0004114tympanic cavity
http://purl.obolibrary.org/obo/UBERON_0006776annular epiphysis
http://purl.obolibrary.org/obo/GO_0090358positive regulation of tryptophan metabolic process
HP:0001149Lattice corneal dystrophy
http://purl.obolibrary.org/obo/GO_0090357regulation of tryptophan metabolic process
HP:0025130Decreased small intestinal mucosa lactase level
HP:0025131Finger swelling
http://purl.obolibrary.org/obo/GO_0016406carnitine O-acyltransferase activity
http://purl.obolibrary.org/obo/GO_0008374DLCL is acylated to MLCL by LCLAT1 (ER)
http://purl.obolibrary.org/obo/GO_0016409ZDHHC2 transfers PALM from PALM-CoA to CKAP4
http://purl.obolibrary.org/obo/UBERON_0004126trabecular layer of ventricle
http://purl.obolibrary.org/obo/UBERON_0004128optic vesicle
HP:0025123White streaks/specks on enamel.
HP:0025124Fragile teeth
HP:0001153Septate vagina
HP:0001151Impaired horizontal smooth pursuit
HP:0025126Oral hairy leukoplakia
HP:0025125White lesion of the oral mucosa
HP:0025127Actinic keratosis
http://purl.obolibrary.org/obo/UBERON_0004122genitourinary system
HP:0025128Reduced intraabdominal adipose tissue
HP:0025129Abnormal small intestinal mucosa morphology
http://purl.obolibrary.org/obo/UBERON_0004124myocardium trabecular layer
http://purl.obolibrary.org/obo/UBERON_0004123myocardial layer
HP:0025122Sawtooth acanthosis
HP:0025092Epidermal acanthosis
http://purl.obolibrary.org/obo/UBERON_0006718medial pterygoid muscle
http://purl.obolibrary.org/obo/UBERON_0006716mesopodium region
http://purl.obolibrary.org/obo/UBERON_0006715radio-ulna
http://purl.obolibrary.org/obo/UBERON_0006719lateral pterygoid muscle
HP:0025192Subtentorial periventricular white matter hyperdensity
HP:0025193Posterolateral diaphragmatic hernia
HP:0025194Morgagni diaphragmatic hernia
HP:0025195Central diaphragmatic hernia
http://purl.obolibrary.org/obo/CHEBI_168313-hydroxy-3-methylglutaric acid
HP:0025196Increased total iron binding capacity
HP:0025197Inclusion body fibromatosis
HP:0025198Inflammatory cap polyp
http://purl.obolibrary.org/obo/UBERON_0006723cochlear modiolus
http://purl.obolibrary.org/obo/UBERON_0006722manubrium of malleus
HP:0025181Abdominal aseptic abscess
http://purl.obolibrary.org/obo/UBERON_0006720pterygoid muscle
HP:0025182Localized area of pendulous skin
HP:0025186Marcus Gunn jaw winking synkinesis
HP:0025180Centrilobular ground-glass opacification on pulmonary HRCT
HP:0025178Subpleural interstitial thickening
HP:0031630Abnormal subpleural morphology
http://purl.obolibrary.org/obo/CHEBI_16813galactitol
HP:0025171Rosette-forming glioneuronal tumor
HP:0025170Neuronal/glioneuronal neoplasm of the central nervous system
HP:0025172Smooth septal thickening on pulmonary HRCT
HP:0025173Nodular septal thickening on pulmonary HRCT
HP:0025174Irregular septal thickening on pulmonary HRCT
http://purl.obolibrary.org/obo/CHEBI_168102-oxoglutarate(2-)
HP:0025175Honeycomb lung
HP:0025176Intralobular interstitial thickening
http://purl.obolibrary.org/obo/CHEBI_16811methionine
HP:0025177Peribronchovascular interstitial thickening
http://purl.obolibrary.org/obo/CHEBI_28815heparan sulfate
http://purl.obolibrary.org/obo/CHEBI_35721heparan sulfates
HP:0025167Fragmented elastic fibers in the dermis
HP:0025168Left ventricular diastolic dysfunction
HP:0025169Left ventricular systolic dysfunction
http://purl.obolibrary.org/obo/CHEBI_16827corticosterone
http://purl.obolibrary.org/obo/CHEBI_479093-oxo-Delta(4) steroid
http://purl.obolibrary.org/obo/CHEBI_477883-oxo steroid
http://purl.obolibrary.org/obo/CHEBI_3534611beta-hydroxy steroid
http://purl.obolibrary.org/obo/CHEBI_3534421-hydroxy steroid
HP:0025161Frequent temper tantrums
HP:0025162Severe temper tantrums
HP:0025160Abnormal temper tantrums
HP:0025163Abnormality of optic chiasm morphology
HP:0025164Increased number of elastic fibers in the dermis
HP:0025165Clumping of elastic fibers in the dermis
HP:0025166Thickened elastic fibers in the dermis
HP:0025082Abnormal cutaneous elastic fiber morphology
http://purl.obolibrary.org/obo/CHEBI_41808decane
http://purl.obolibrary.org/obo/CHEBI_28842octadecanoic acid
http://purl.obolibrary.org/obo/CHEBI_39418straight-chain saturated fatty acid
http://purl.obolibrary.org/obo/CHEBI_59202straight-chain fatty acid
http://purl.obolibrary.org/obo/CHEBI_28869menadione
http://purl.obolibrary.org/obo/CHEBI_16865gamma-aminobutyric acid
http://purl.obolibrary.org/obo/PR_P09838DNA nucleotidylexotransferase (mouse)
http://purl.obolibrary.org/obo/PR_P10810monocyte differentiation antigen CD14 (mouse)
http://purl.obolibrary.org/obo/GO_0043931ossification involved in bone maturation
http://purl.obolibrary.org/obo/GO_0043932ossification involved in bone remodeling
http://purl.obolibrary.org/obo/CHEBI_90708retinoic acid receptor modulator
http://purl.obolibrary.org/obo/CHEBI_90709nuclear receptor modulator
http://purl.obolibrary.org/obo/PR_P0CW03lymphocyte antigen 6C2 (mouse)
http://purl.obolibrary.org/obo/CHEBI_38161chelator
http://purl.obolibrary.org/obo/CHEBI_52214ligand
HP:0003749Pelvic girdle muscle weakness
http://purl.obolibrary.org/obo/PATO_0000891male fertile
http://purl.obolibrary.org/obo/PATO_0000892female sterile
http://purl.obolibrary.org/obo/PATO_0000890male sterile
http://purl.obolibrary.org/obo/PATO_0000956sterile
http://purl.obolibrary.org/obo/UBERON_0004096odontoid process of cervical vertebra 2
http://purl.obolibrary.org/obo/UBERON_0004098tibial plateaux
http://purl.obolibrary.org/obo/UBERON_0004099joint space of elbow
HP:0003744Genetic anticipation with paternal anticipation bias
HP:0003743Genetic anticipation
http://purl.obolibrary.org/obo/UBERON_0004090periorbital region
HP:0003745Sporadic
http://purl.obolibrary.org/obo/UBERON_0004092hypothalamus-pituitary axis
HP:0003740Myotonia with warm-up phenomenon
HP:0003741Congenital muscular dystrophy
HP:0003759Hypoplasia of lymphatic vessels
http://purl.obolibrary.org/obo/PATO_0000888female fertile
http://purl.obolibrary.org/obo/GO_0004333(S)-Malate <=> Fumarate + H2O
HP:0003755Type 1 fibers relatively smaller than type 2 fibers
HP:0012084Abnormality of skeletal muscle fiber size
HP:0003756Skeletal myopathy
HP:0003750Increased muscle fatiguability
http://purl.obolibrary.org/obo/GO_0016311dephosphorylation
HP:0003752Episodic flaccid weakness
HP:0010547Muscle flaccidity
http://purl.obolibrary.org/obo/GO_0090317negative regulation of intracellular protein transport
HP:0001107Ocular albinism
HP:0003760Percussion-induced rapid rolling muscle contractions
HP:0003765Psoriasiform dermatitis
HP:0001106Periorbital hyperpigmentation
http://purl.obolibrary.org/obo/GO_0090316positive regulation of intracellular protein transport
http://purl.obolibrary.org/obo/GO_0033157regulation of intracellular protein transport
HP:0001104Macular hypoplasia
HP:0001101Iritis
HP:0003762Uterus didelphys
HP:0003761Calcinosis
HP:0001102Angioid streaks of the fundus
HP:0003763Bruxism
http://purl.obolibrary.org/obo/GO_0031966mitochondrial membrane
http://purl.obolibrary.org/obo/GO_0031967organelle envelope
HP:0001118Juvenile cataract
HP:0001119Keratoglobus
HP:0100692Increased corneal curvature
HP:0100689Decreased corneal thickness
http://purl.obolibrary.org/obo/PR_P34810macrosialin (human)
HP:0003771Pulp stones
HP:0006479Abnormality of the dental pulp
http://purl.obolibrary.org/obo/GO_0004347D-fructose 6-phosphate <=> alpha-D-Glucose 6-phosphate
HP:0003777Pili torti
HP:0001116Macular coloboma
HP:0000480Retinal coloboma
http://purl.obolibrary.org/obo/GO_0016331morphogenesis of embryonic epithelium
HP:0001117Sudden loss of visual acuity
HP:0003779Antegonial notching of mandible
HP:0001114Xanthelasma
HP:0001115Posterior polar cataract
HP:0001112Leber optic atrophy
HP:0003774Stage 5 chronic kidney disease
HP:0012622Chronic kidney disease
HP:0003707Calf muscle pseudohypertrophy
HP:0003704Scapuloperoneal weakness
http://purl.obolibrary.org/obo/UBERON_0018691ventral side of post-anal tail
http://purl.obolibrary.org/obo/GO_0031975envelope
http://purl.obolibrary.org/obo/UBERON_0018692dorsal side of post-anal tail
http://purl.obolibrary.org/obo/UBERON_0004053external male genitalia
http://purl.obolibrary.org/obo/UBERON_0004176external genitalia
http://purl.obolibrary.org/obo/UBERON_0004054internal male genitalia
http://purl.obolibrary.org/obo/UBERON_0004058biliary ductule
HP:0003700Generalized amyotrophy
HP:0003719Muscle mounding
HP:0010548Percussion myotonia
http://purl.obolibrary.org/obo/GO_0031987locomotion involved in locomotory behavior
HP:0003715Myofibrillar myopathy
HP:0003716Generalized muscular appearance from birth
http://purl.obolibrary.org/obo/GO_0031981nuclear lumen
http://purl.obolibrary.org/obo/GO_0070013intracellular organelle lumen
http://purl.obolibrary.org/obo/GO_0043233organelle lumen
http://purl.obolibrary.org/obo/GO_0031974membrane-enclosed lumen
http://purl.obolibrary.org/obo/UBERON_0004064neural tube basal plate
http://purl.obolibrary.org/obo/UBERON_0004066frontonasal prominence
http://purl.obolibrary.org/obo/UBERON_0004067lateral nasal prominence
http://purl.obolibrary.org/obo/UBERON_0004068medial nasal prominence
http://purl.obolibrary.org/obo/UBERON_0009292embryonic nasal process
HP:0003710Exercise-induced muscle cramps
HP:0003713Muscle fiber necrosis
http://purl.obolibrary.org/obo/UBERON_0004062neural tube marginal layer
HP:0003729Enteroviral dermatomyositis syndrome
HP:0002743Recurrent enteroviral infections
HP:0003725Firm muscles
http://purl.obolibrary.org/obo/CL_1000505kidney pelvis cell
HP:0003722Neck flexor weakness
HP:0000467Neck muscle weakness
HP:0003724Shoulder girdle muscle atrophy
HP:0003720Generalized muscle hypertrophy
HP:0003737Mitochondrial myopathy
HP:0003736Autophagic vacuoles
http://purl.obolibrary.org/obo/CL_1000510kidney glomerular epithelial cell
HP:0003738Exercise-induced myalgia
http://purl.obolibrary.org/obo/UBERON_0004085labium majora
http://purl.obolibrary.org/obo/UBERON_0004088orbital region
http://purl.obolibrary.org/obo/UBERON_0004089midface
HP:0003733Thigh hypertrophy
HP:0008968Muscle hypertrophy of the lower extremities
http://purl.obolibrary.org/obo/CHEBI_90799dipeptide zwitterion
http://purl.obolibrary.org/obo/CHEBI_60466peptide zwitterion
HP:0003731Quadriceps muscle weakness
HP:0008994Proximal muscle weakness in lower limbs
HP:0003730EMG: myotonic runs
http://purl.obolibrary.org/obo/UBERON_0004016dermatome
http://purl.obolibrary.org/obo/CHEBI_26106phylloquinones
HP:0025233Sleep paralysis
HP:0001285Spastic tetraparesis
HP:0025236Somnambulism
HP:0001283Bulbar palsy
HP:0025237Confusional arousal
HP:0025238Foot pain
HP:0001281Tetany
http://purl.obolibrary.org/obo/UBERON_0004014labium minora
http://purl.obolibrary.org/obo/UBERON_0004084genital labium
HP:0025239Subhyaloid hemorrhage
http://purl.obolibrary.org/obo/UBERON_0004015embryonic-extraembryonic boundary
http://purl.obolibrary.org/obo/UBERON_0006677surface of epithelium
http://purl.obolibrary.org/obo/UBERON_0006675venous valve
http://purl.obolibrary.org/obo/UBERON_0006673mandibular canal
HP:0001289Confusion
http://purl.obolibrary.org/obo/UBERON_0006671orbital fat pad
http://purl.obolibrary.org/obo/UBERON_0006670central tendon of diaphragm
HP:0025232Bursitis
HP:0025231Abnormality of synovial bursa morphology
http://purl.obolibrary.org/obo/UBERON_0006689frenulum of tongue
http://purl.obolibrary.org/obo/UBERON_0005020mucosa of tongue
http://purl.obolibrary.org/obo/UBERON_0036293oral frenulum
http://purl.obolibrary.org/obo/UBERON_0018667neck of scapula
HP:0025222Triggered by sleep deprivation
HP:0025223Triggered by smoking
HP:0025224Triggered by sodium ingestion
HP:0025225Triggered by sound
http://purl.obolibrary.org/obo/UBERON_0004022germinal neuroepithelium
HP:0025226Triggered by stress
HP:0025227Triggered by excitement
HP:0025228Triggered by sudden movement
HP:0025229Triggered by vestibular stimulation
http://purl.obolibrary.org/obo/UBERON_0006686spinal vein
http://purl.obolibrary.org/obo/GO_0006909phagocytosis
http://purl.obolibrary.org/obo/UBERON_0006683posterior fontanelle
http://purl.obolibrary.org/obo/UBERON_0002221fontanelle
http://purl.obolibrary.org/obo/UBERON_0006682hypoglossal canal
HP:0025220Triggered by menstruation
HP:0025221Triggered by pregnancy
http://purl.obolibrary.org/obo/UBERON_0018673neck of fibula
http://purl.obolibrary.org/obo/UBERON_0018674heart vasculature
http://purl.obolibrary.org/obo/CL_1000546kidney medulla collecting duct epithelial cell
http://purl.obolibrary.org/obo/CL_0001201B cell, CD19-positive
http://purl.obolibrary.org/obo/CL_0000236B cell
http://purl.obolibrary.org/obo/CL_0001200lymphocyte of B lineage, CD19-positive
http://purl.obolibrary.org/obo/CL_0000945lymphocyte of B lineage
HP:0025219Triggered by vaccination
http://purl.obolibrary.org/obo/CL_1000547kidney inner medulla collecting duct epithelial cell
http://purl.obolibrary.org/obo/CL_1000549kidney cortex collecting duct epithelial cell
http://purl.obolibrary.org/obo/CL_1001225kidney collecting duct cell
http://purl.obolibrary.org/obo/CHEBI_28789L-glucitol
http://purl.obolibrary.org/obo/CHEBI_30911glucitol
http://purl.obolibrary.org/obo/GO_0006941striated muscle contraction
http://purl.obolibrary.org/obo/CHEBI_26127phytylnaphthoquinone
HP:0025211Triggered by ethanol ingestion
HP:0025212Triggered by fasting
HP:0025213Triggered by galactose ingestion
HP:0025214Triggered by heat
HP:0025215Triggered by febrile illness
http://purl.obolibrary.org/obo/UBERON_0004035cortical subplate
HP:0025216Triggered by heavy meal
HP:0025217Triggered by high-fat diet
HP:0025218Triggered by hyperventilation
http://purl.obolibrary.org/obo/UBERON_0018679thoracic splanchnic nerve
http://purl.obolibrary.org/obo/UBERON_0006694cerebellum vasculature
http://purl.obolibrary.org/obo/UBERON_0006692vertebral canal
HP:0025210Triggered by glucose ingestion
http://purl.obolibrary.org/obo/CHEBI_16782(S)-2-hydroxyglutarate(2-)
http://purl.obolibrary.org/obo/CHEBI_115962-hydroxyglutarate(2-)
HP:0025209Triggered by fructose ingestion
HP:0025208Triggered by carbohydrate ingestion
http://purl.obolibrary.org/obo/UBERON_0004041spleen primary B follicle
http://purl.obolibrary.org/obo/UBERON_0010422primary nodular lymphoid tissue
HP:0025200Muscle fiber actin filament accumulation
HP:0100299Muscle fiber inclusion bodies
http://purl.obolibrary.org/obo/UBERON_0004042spleen secondary B follicle
HP:0025202Elevated apolipoprotein A-IV level
HP:0025201Abnormal apolipoprotein level
HP:0025203Caput medusae
HP:0025205Triggered by breast feeding
HP:0025206Triggered by cold
HP:0025207Triggered by dehydration
http://purl.obolibrary.org/obo/UBERON_0004040cortical intermediate zone
http://purl.obolibrary.org/obo/UBERON_0014950layer of developing cerebral cortex
http://purl.obolibrary.org/obo/UBERON_0006635anterior abdominal wall
HP:0025277Gustatory sweating
HP:0025278Cold-induced sweating
HP:0001241Capitate-hamate fusion
HP:0004259Abnormality of the hamate bone
HP:0004262Abnormality of the capitate bone
HP:0025279Migratory
http://purl.obolibrary.org/obo/GO_0006956complement activation
http://purl.obolibrary.org/obo/GO_0006959humoral immune response
HP:0001248Short tubular bones of the hand
http://purl.obolibrary.org/obo/UBERON_0006633coracoid process of scapula
http://purl.obolibrary.org/obo/UBERON_0006632musculo-phrenic artery
http://purl.obolibrary.org/obo/UBERON_0002057phrenic artery
HP:0025271Esophageal spasms
HP:0025272Melasma
HP:0025273Achilles tendonitis
HP:0025230Tendonitis
HP:0025274Ovarian dermoid cyst
HP:0012226Ovarian teratoma
HP:0001245Small thenar eminence
HP:0025275Lateral
http://purl.obolibrary.org/obo/UBERON_0006648adventitia of seminal vesicle
http://purl.obolibrary.org/obo/UBERON_0006647adventitia of ductus deferens
http://purl.obolibrary.org/obo/UBERON_0006646muscle layer of epididymis
http://purl.obolibrary.org/obo/UBERON_0006645adventitia of epididymis
HP:0025266Cervical osteoarthritis
HP:0025268Stuttering
http://purl.obolibrary.org/obo/CHEBI_28790serotonin
http://purl.obolibrary.org/obo/CHEBI_84729hydroxyindoles
HP:0025269Panic attack
http://purl.obolibrary.org/obo/UBERON_0006642muscle layer of oviduct
http://purl.obolibrary.org/obo/GO_0090206negative regulation of cholesterol metabolic process
HP:0025260Stiff wrist
HP:0025261Stiff finger
http://purl.obolibrary.org/obo/GO_0090205positive regulation of cholesterol metabolic process
http://purl.obolibrary.org/obo/GO_0090181regulation of cholesterol metabolic process
HP:0025262Stiff hip
HP:0001256Intellectual disability, mild
HP:0025263Stiff knee
HP:0025264Stiff ankle
HP:0025265Stiff toe
HP:0001254Lethargy
http://purl.obolibrary.org/obo/GO_0018958phenol-containing compound metabolic process
http://purl.obolibrary.org/obo/UBERON_0006658interphalangeal joint
http://purl.obolibrary.org/obo/UBERON_0006657glenoid fossa
HP:0025255Ameliorated by pregnancy
HP:0001262Excessive daytime somnolence
HP:0025256Ameliorated by heat
HP:0025257Ameliorated by carbohydrate ingestion
HP:0025258Stiff neck
HP:0025259Stiff elbow
http://purl.obolibrary.org/obo/UBERON_0006655septum of scrotum
http://purl.obolibrary.org/obo/CHEBI_38147cardiotonic drug
http://purl.obolibrary.org/obo/CHEBI_35554cardiovascular drug
http://purl.obolibrary.org/obo/UBERON_0006653glans clitoris
HP:0025250Closed comedo
HP:0001269Hemiparesis
http://purl.obolibrary.org/obo/UBERON_0006652muscular layer of vagina
HP:0025251Open comedo
HP:0025252Geographic tongue
HP:0025253Claustrophobia
HP:0100852Abnormal fear/anxiety-related behavior
HP:0001264Spastic diplegia
http://purl.obolibrary.org/obo/UBERON_0006668carotid canal
http://purl.obolibrary.org/obo/UBERON_0018645incisor region of dentition
http://purl.obolibrary.org/obo/UBERON_0004008cerebellar plate
http://purl.obolibrary.org/obo/GO_0006974cellular response to DNA damage stimulus
http://purl.obolibrary.org/obo/GO_0033554cellular response to stress
HP:0025244Subretinal pigment epithelium hemorrhage
HP:0025246Trichilemmal cyst
http://purl.obolibrary.org/obo/GO_0006968cellular defense response
HP:0001271Polyneuropathy
HP:0025247Dermoid cyst
http://purl.obolibrary.org/obo/UBERON_0004000tarsal gland acinus
HP:0025248Eruptive vellus hair cyst
HP:0025245Cutaneous cyst
http://purl.obolibrary.org/obo/UBERON_0004001olfactory bulb layer
HP:0025249Comedo
http://purl.obolibrary.org/obo/UBERON_0006664greater palatine artery
HP:0025240Preretinal hemorrhage
http://purl.obolibrary.org/obo/UBERON_0006661epicranial aponeurosis
HP:0025241Flame-shaped retinal hemorrhage
HP:0025242Dot-and-blot retinal hemorrhage
HP:0031805Intraretinal hemorrhage
http://purl.obolibrary.org/obo/GO_0043903regulation of symbiotic process
http://purl.obolibrary.org/obo/CHEBI_16716benzene
http://purl.obolibrary.org/obo/CHEBI_134179volatile organic compound
http://purl.obolibrary.org/obo/UBERON_0006608corpus cavernosum clitoridis
http://purl.obolibrary.org/obo/UBERON_0006606mandibular symphysis
http://purl.obolibrary.org/obo/UBERON_0006603presumptive mesoderm
http://purl.obolibrary.org/obo/UBERON_0006601presumptive ectoderm
http://purl.obolibrary.org/obo/UBERON_0006609corpus cavernosum
http://purl.obolibrary.org/obo/UBERON_0006600presumptive enteric nervous system
http://purl.obolibrary.org/obo/UBERON_0006617left external ear
http://purl.obolibrary.org/obo/UBERON_0006616right external ear
HP:0025291Lower-body predominance
HP:0025292Acral
HP:0025293Distributed along Blaschko lines
HP:0025294Dermatomal
HP:0025295Herpetiform
HP:0025296Morbilliform
HP:0025297Prolonged
http://purl.obolibrary.org/obo/UBERON_0018600lower second primary molar tooth
HP:0025290Upper-body predominance
HP:0025289Cervical lymphadenopathy
HP:0002716Lymphadenopathy
http://purl.obolibrary.org/obo/CHEBI_16708adenine
http://purl.obolibrary.org/obo/CHEBI_207066-aminopurines
HP:0025281Sharp
HP:0025282Dull
HP:0025283Tender
HP:0025284Sleep-interrupting
HP:0025280Pain characteristic
HP:0025286Aggravated by activity
HP:0025287Axial
http://purl.obolibrary.org/obo/CHEBI_16765tryptamine
http://purl.obolibrary.org/obo/CHEBI_27162tryptamines
http://purl.obolibrary.org/obo/CHEBI_16737creatinine
http://purl.obolibrary.org/obo/CHEBI_16742orotic acid
http://purl.obolibrary.org/obo/CHEBI_63070beta-alaninate
http://purl.obolibrary.org/obo/CHEBI_49095beta-amino-acid anion
HP:0003809Reduced intrathoracic adipose tissue
HP:0003803Type 1 muscle fiber predominance
HP:0003805Rimmed vacuoles
HP:0003800Muscle abnormality related to mitochondrial dysfunction
HP:0003819Death in childhood
HP:0003810Late-onset distal muscle weakness
HP:0003811Neonatal death
HP:0003869Humeral cortical thinning
HP:0002753Thin bony cortex
HP:0003868Humeral cortical thickening
http://purl.obolibrary.org/obo/CL_1000600lower urinary tract cell
http://purl.obolibrary.org/obo/CL_1000606kidney nerve cell
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6342KIT (human)
HP:0003865Bowed humerus
HP:0003864Bifid humerus
HP:0003866Coarse humeral trabeculae
HP:0003863Angulated humerus
HP:0003862Absent humerus
HP:0003879Humeral pseudarthrosis
HP:0001217Clubbing
HP:0003870Crumpled humerus
HP:0003876Osteoporotic humerus
HP:0003875Humeral lytic defects
HP:0001216Delayed ossification of carpal bones
HP:0004052Delayed ossification of the hand bones
HP:0003878Periosteal new bone of humerus
HP:0003877Oval transradiancy of humerus
HP:0003872Humeral exostoses
HP:0001212Prominent fingertip pads
HP:0003874Humerus varus
HP:0003880Sclerotic foci of the humerus
HP:0003881Humeral sclerosis
HP:0003886Wide humerus
HP:0001227Abnormality of the thenar eminence
HP:0003888Flattened humeral heads
HP:0001225Wrist swelling
HP:0003883Tapered humerus
HP:0001222Spatulate thumbs
HP:0003882Slender humerus
HP:0001223Pointed proximal second through fifth metacarpals
HP:0006119Proximal tapering of metacarpals
HP:0003885Undermodeled humerus
HP:0003884Triangular humerus
HP:0001239Wrist flexion contracture
http://purl.obolibrary.org/obo/CHEBI_26078phosphoric acid
http://purl.obolibrary.org/obo/CHEBI_59698phosphoric acids
http://purl.obolibrary.org/obo/CHEBI_33457phosphorus oxoacid
http://purl.obolibrary.org/obo/CHEBI_33408pnictogen oxoacid
HP:0003890Prominent deltoid tuberosities
HP:0003889Abnormality of the deltoid tuberosities
HP:0001230Broad metacarpals
HP:0003892Absent humeral epiphyseal ossification
HP:0001238Slender finger
HP:0003899Round humeral epiphyses
HP:0003894Delayed humeral epiphyseal ossification
HP:0003893Advanced ossification of the humeral epiphysis
HP:0001234Hitchhiker thumb
HP:0003896Irregular humeral epiphyses
HP:0003895Flattened humeral epiphyses
HP:0001232Nail bed telangiectasia
HP:0003828Variable expressivity
http://purl.obolibrary.org/obo/UBERON_0018575upper first secondary molar tooth
http://purl.obolibrary.org/obo/UBERON_0018576upper second secondary molar tooth
http://purl.obolibrary.org/obo/UBERON_0018578lower first secondary molar tooth
http://purl.obolibrary.org/obo/UBERON_0018608permanent molar tooth 1
http://purl.obolibrary.org/obo/UBERON_0018579lower second secondary molar tooth
http://purl.obolibrary.org/obo/UBERON_0018607permanent molar tooth 2
HP:0003826Stillbirth
http://purl.obolibrary.org/obo/UBERON_0018570lower lateral secondary incisor tooth
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6307KDR (human)
http://purl.obolibrary.org/obo/UBERON_0006596presumptive blood
http://purl.obolibrary.org/obo/UBERON_0006595presumptive endoderm
HP:0003836Stippled calcification of the shoulder
http://purl.obolibrary.org/obo/UBERON_0018588upper first primary molar tooth
HP:0003835Shoulder subluxation
http://purl.obolibrary.org/obo/UBERON_0018589lower first primary molar tooth
http://purl.obolibrary.org/obo/UBERON_0018644deciduous molar tooth 1
HP:0003837Soft-tissue ossification around the shoulders
HP:0011986Ectopic ossification
HP:0003831Age-dependent penetrance
HP:0003829Incomplete penetrance
HP:0003812Phenotypic variability
HP:0003834Shoulder dislocation
HP:0003833Laterally deficient tibial plateaux
HP:0003832Abnormality of the tibial plateaux
http://purl.obolibrary.org/obo/GO_0016234inclusion body
http://purl.obolibrary.org/obo/UBERON_0018594upper lateral primary incisor tooth
http://purl.obolibrary.org/obo/UBERON_0018604upper lateral incisor tooth
http://purl.obolibrary.org/obo/UBERON_0018595lower central primary incisor tooth
http://purl.obolibrary.org/obo/UBERON_0018596lower lateral primary incisor tooth
http://purl.obolibrary.org/obo/UBERON_0018602lower lateral incisor tooth
http://purl.obolibrary.org/obo/UBERON_0018597upper primary canine tooth
http://purl.obolibrary.org/obo/UBERON_0018598lower primary canine tooth
http://purl.obolibrary.org/obo/UBERON_0018583primary canine tooth
http://purl.obolibrary.org/obo/UBERON_0018599upper second primary molar tooth
http://purl.obolibrary.org/obo/UBERON_0018643deciduous molar tooth 2
http://purl.obolibrary.org/obo/UBERON_0018606molar tooth 2
http://purl.obolibrary.org/obo/GO_0043891glyceraldehyde-3-phosphate dehydrogenase (NAD(P)+) (phosphorylating) activity
HP:0003848Cupped metaphyses of the upper limbs
http://purl.obolibrary.org/obo/UBERON_0018593upper central primary incisor tooth
http://purl.obolibrary.org/obo/UBERON_0018603upper central incisor tooth
http://purl.obolibrary.org/obo/UBERON_0018591upper primary incisor tooth
HP:0003843Round epiphyses of the upper limbs
http://purl.obolibrary.org/obo/CHEBI_63046emulsifier
HP:0400002Extra concha fold
HP:0400001Chin with vertical crease
HP:0400000Tall chin
HP:0400005Short ear
HP:0400004Long ear
HP:0400003Focal absence of the external ear
HP:0400008Menometrorrhagia
HP:0400007Polymenorrhea
HP:0000140Abnormality of the menstrual cycle
HP:0003853Sclerosis with transverse striations in metaphyses of the upper limbs
HP:0003855Spurred metaphyses of the upper limbs
http://purl.obolibrary.org/obo/UBERON_0018531female superficial inguinal ring
http://purl.obolibrary.org/obo/UBERON_0018532female deep inguinal ring
http://purl.obolibrary.org/obo/UBERON_0018530male inguinal ring
http://purl.obolibrary.org/obo/UBERON_0006558lymphatic part of lymphoid system
http://purl.obolibrary.org/obo/CHEBI_26463pyruvate family amino acid
HP:0025355Retinal arterial macroaneurysms
HP:0025356Psychomotor retardation
HP:0025357Erratic myoclonus
HP:0025358Uveal ectropion
HP:0025359Polygonal renal calices
http://purl.obolibrary.org/obo/GO_00046181,3-bisphospho-D-glycerate + ADP <=> 3-phospho-D-glycerate + ADP
http://purl.obolibrary.org/obo/GO_0016301FN3K phosphorylates ketosamines
http://purl.obolibrary.org/obo/CHEBI_384431-benzopyran
http://purl.obolibrary.org/obo/GO_00046192-Phospho-D-glycerate <=> 3-Phospho-D-glycerate
http://purl.obolibrary.org/obo/UBERON_0006553renal duct
HP:0025350Giant conjunctival papillae
HP:0025351Recurrent interdigital mycosis
HP:0025352Autosomal dominant germline de novo mutation
HP:0025353Anti-multiple nuclear dots antibody positivity
http://purl.obolibrary.org/obo/UBERON_0018542mandibular symphyseal region
http://purl.obolibrary.org/obo/UBERON_0018543lumen of intestine
http://purl.obolibrary.org/obo/UBERON_0006568hypothalamic nucleus
http://purl.obolibrary.org/obo/CHEBI_26455pyrroles
http://purl.obolibrary.org/obo/CHEBI_26456pyrrolidine alkaloid
HP:0025343Lupus anticoagulant
HP:0025344Interlobular bile duct destruction
HP:0025346Increased circulating beta-2-microglobulin level
http://purl.obolibrary.org/obo/GO_0004601AhpC reduces H2O2
http://purl.obolibrary.org/obo/GO_0016209antioxidant activity
HP:0025347Decreased circulating beta-2-microglobulin level
HP:0025345Abnormality of circulating beta-2-microglobulin level
HP:0025349Limbal edema
HP:0025348Abnormality of the corneal limbus
http://purl.obolibrary.org/obo/UBERON_0006567right ventricle myocardium
http://purl.obolibrary.org/obo/UBERON_0006566left ventricle myocardium
http://purl.obolibrary.org/obo/UBERON_0006565female urethral meatus
http://purl.obolibrary.org/obo/UBERON_0012240urethral meatus
http://purl.obolibrary.org/obo/UBERON_0010418urethral opening
http://purl.obolibrary.org/obo/UBERON_0006563tunica media of pulmonary trunk
http://purl.obolibrary.org/obo/UBERON_0007239tunica media of artery
HP:0025340Deep episcleral hyperemia
HP:0025341Corneal keratic precipitates
http://purl.obolibrary.org/obo/UBERON_0006561non-lymphatic part of lymphoid system
HP:0025342Central retinal artery occlusion
http://purl.obolibrary.org/obo/UBERON_0018553primary central incisor tooth
http://purl.obolibrary.org/obo/UBERON_0018554primary lateral incisor tooth
http://purl.obolibrary.org/obo/UBERON_0018552lateral incisor tooth
http://purl.obolibrary.org/obo/GO_0016616RDH11 reduces RBP2:atRAL to RBP2:atROL
http://purl.obolibrary.org/obo/GO_0016614Fgd1 reactivates F420
http://purl.obolibrary.org/obo/CHEBI_51422organodiyl group
HP:0025333Cortical thinning of foot bones
HP:0025332Abnormality of foot cortical bone
HP:0025334Triggered by emotion
HP:0025335Delayed ability to stand
http://purl.obolibrary.org/obo/GO_00046342-Phospho-D-glycerate <=> Phosphoenolpyruvate + H2O
HP:0025336Delayed ability to sit
HP:0025338Circumlimbal hyperemia
HP:0025339Superficial episcleral hyperemia
http://purl.obolibrary.org/obo/UBERON_0006574pectinate line
http://purl.obolibrary.org/obo/GO_0016620MscR reduces nitrosomycothiol to ammonia
HP:0025330Downgaze palsy
HP:0025331Upgaze palsy
HP:0000511Vertical supranuclear gaze palsy
http://purl.obolibrary.org/obo/UBERON_0018561upper secondary canine tooth
http://purl.obolibrary.org/obo/UBERON_0018621upper canine tooth
http://purl.obolibrary.org/obo/UBERON_0018562lower secondary canine tooth
http://purl.obolibrary.org/obo/UBERON_0018622lower canine tooth
http://purl.obolibrary.org/obo/UBERON_0018584secondary canine tooth
http://purl.obolibrary.org/obo/UBERON_0018568lower central secondary incisor tooth
http://purl.obolibrary.org/obo/UBERON_0018601lower central incisor tooth
http://purl.obolibrary.org/obo/UBERON_0018551central incisor tooth
http://purl.obolibrary.org/obo/UBERON_0018623lower secondary incisor tooth
http://purl.obolibrary.org/obo/UBERON_0018550secondary incisor tooth
HP:0025329Anti-glutamic acid decarboxylase antibody positivity
HP:0025321Copper accumulation in liver
HP:0025322Venous occlusion
HP:0025324Arterial occlusion
HP:0025325Sparse medial eyebrow
HP:0025327Decreased renal parenchymal thickness
HP:0025328Antepartum hemorrhage
http://purl.obolibrary.org/obo/UBERON_0006589round ligament of uterus
http://purl.obolibrary.org/obo/CHEBI_63410all-trans-retinyl ester
http://purl.obolibrary.org/obo/UBERON_0006585vestibular organ
http://purl.obolibrary.org/obo/CL_1000681kidney cortex interstitial cell
HP:0025320Leakage of dye on fundus fluorescein angiography
http://purl.obolibrary.org/obo/UBERON_0006517kidney calyx
http://purl.obolibrary.org/obo/UBERON_0006514pallidum
http://purl.obolibrary.org/obo/CHEBI_51446organic divalent group
HP:0025398Nodular-perilymphatic pattern on pulmonary HRCT
HP:0001361Nystagmus-induced head nodding
HP:0025399Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT
http://purl.obolibrary.org/obo/GO_0004658propionyl-CoA + CO2 + ATP <=> D-methylmalonyl-CoA + ADP + orthophosphate
http://purl.obolibrary.org/obo/GO_0016421CoA carboxylase activity
HP:0001362Calvarial skull defect
HP:0025390Reticular pattern on pulmonary HRCT
HP:0025391Crazy paving pattern on pulmonary HRCT
HP:0025393Reticulonodular pattern on pulmonary HRCT
HP:0025394Cystic pattern on pulmonary HRCT
HP:0025395Combined cystic and ground-glass pattern on pulmonary HRCT
HP:0025396Decreased attenuation pattern on pulmonary HRCT
HP:0025397Mosaic attenuation pattern on pulmonary HRCT
http://purl.obolibrary.org/obo/GO_0016623oxidoreductase activity, acting on the aldehyde or oxo group of donors, oxygen as acceptor
HP:0025387Pill-rolling tremor
HP:0002322Resting tremor
HP:0025388Thyroid nodule
HP:0025380Increased serum androstenedione
HP:0025381Anti-pituitary antibody positivity
HP:0025382Hypodipsia
HP:0025383Dorsocervical fat pad
http://purl.obolibrary.org/obo/UBERON_0018508foramen of nasal bone
http://purl.obolibrary.org/obo/CHEBI_63436carbohydrate acid derivative
HP:0025385Diet-resistant subcutaneous adipose tissue below waist
HP:0025384Diet-resistant subcutaneous adipose tissue
HP:0001374Congenital hip dislocation
HP:0002827Hip dislocation
HP:0025386Bitemporal hollowing
http://purl.obolibrary.org/obo/UBERON_0006538respiratory system fluid/secretion
http://purl.obolibrary.org/obo/UBERON_0006537female reproductive gland secretion
http://purl.obolibrary.org/obo/UBERON_0006535skin secretion
HP:0025376Hyperglutaminuria
HP:0025377Triggered by exertion
http://purl.obolibrary.org/obo/GO_0090594inflammatory response to wounding
HP:0025379Anti-thyroid peroxidase antibody positivity
http://purl.obolibrary.org/obo/GO_0014003oligodendrocyte development
HP:0025371Delayed ossification of the sacrum
HP:0025372Loud snoring
HP:0025267Snoring
http://purl.obolibrary.org/obo/UBERON_0006530seminal fluid
http://purl.obolibrary.org/obo/UBERON_0006536male reproductive gland secretion
http://purl.obolibrary.org/obo/UBERON_0022293reproductive gland secretion
HP:0025374Duplicated odontoid process
HP:0001385Hip dysplasia
HP:0025375Orthotopic os odontoideum
HP:0001386Joint swelling
HP:0025367Trichoepithelioma
HP:0012843Hair follicle neoplasm
HP:0025369Thick growth plates
HP:0025368Abnormality of growth plate morphology
http://purl.obolibrary.org/obo/GO_0002009morphogenesis of an epithelium
http://purl.obolibrary.org/obo/UBERON_0006544kidney vasculature
http://purl.obolibrary.org/obo/UBERON_0002201vasculature of trunk
http://purl.obolibrary.org/obo/CHEBI_38497respiratory-chain inhibitor
http://purl.obolibrary.org/obo/CHEBI_38496electron-transport chain inhibitor
http://purl.obolibrary.org/obo/CHEBI_76932pathway inhibitor
HP:0025360Polycalycosis
http://purl.obolibrary.org/obo/UBERON_0018529female inguinal ring
HP:0025362Renal medullary pyramid hypoplasia
HP:0025361Abnormality of medullary pyramid morphology
HP:0001399Hepatic failure
HP:0025363Endocapillary hypercellularity
HP:0025364Extracapillary hypercellularity
http://purl.obolibrary.org/obo/CHEBI_26421pyridines
http://purl.obolibrary.org/obo/PR_O148415-oxoprolinase (human)
http://purl.obolibrary.org/obo/CHEBI_26447pyrimidinemonocarboxylic acid
http://purl.obolibrary.org/obo/CHEBI_78574pyrimidinecarboxylic acid
http://purl.obolibrary.org/obo/CHEBI_26432pyrimidine nucleobase
HP:0003906Broad humeral epiphyseal plate
HP:0003846Wide epiphyseal plates of the upper limbs
HP:0003905Abnormality of the humeral epiphyseal plate
HP:0003908Corner fracture of metaphysis
HP:0003902Epiphyseal stippling of the humerus
HP:0003897Irregular ossification of the humeral epiphyses
HP:0003901Stippled calcification of the humeral epiphyses
HP:0003903Broad humeral epiphyses
HP:0003898Large humeral epiphyses
HP:0003904Wide epiphyses of the upper limbs
HP:0003909Cortical subperiosteal resorption of humeral metaphyses
HP:0003900Small humeral epiphyses
HP:0003917Pointed humeral metaphysis
HP:0003916Normal-density transverse humeral bands
HP:0003852Normal density transverse bands in metaphyses of the upper limbs
HP:0003919Sclerotic humeral metaphysis with longitudinal striations
HP:0003912Frayed humeral metaphyses
HP:0003915Lytic defects of the humeral metaphysis
HP:0003851Lytic defects in metaphyses of the upper limbs
HP:0003914Irregular ossification of humeral metaphyses
HP:0012791Abnormal humeral ossification
HP:0003911Flared humeral metaphysis
HP:0003910Enlarged humeral metaphyses
HP:0003928Cortical thickening of humeral diaphysis
HP:0003859Cortical diaphyseal thickening of the upper limbs
HP:0003927Cortical irregularity of humeral diaphysis
HP:0003867Humeral cortical irregularity
HP:0010629Abnormal morphology of the cortex of the humerus
HP:0003858Cortical diaphyseal irregularity of the upper limbs
HP:0003929Ground glass opacity of humeral diaphysis
HP:0003924Stippled calcification of humeral metaphysis
HP:0003923Square humeral metaphysis
HP:0003922Spurred humeral metaphysis
HP:0003921Laterally sloping humeral metaphysis
HP:0003920Sloping humeral metaphysis
HP:0003939Humeroulnar synostosis
HP:0100745Abnormality of the humeroulnar joint
HP:0003935Wide humeral diaphysis
HP:0003861Broad diaphyses of the upper limbs
HP:0003934Slender humeral diaphysis
HP:0003931Periosteal new bone of humeral diaphysis
HP:0003930Lytic defects of humeral diaphysis
HP:0003933Sclerosis of humeral diaphysis
HP:0006440Increased density of long bone diaphyses
HP:0003860Diaphyseal sclerosis of the upper limbs
HP:0003932Sclerotic foci of humeral diaphysis
HP:0003926Abnormality of the humeral diaphysis
http://purl.obolibrary.org/obo/CHEBI_75325cathartic
HP:0003989Notched ulna
HP:0001327Photosensitive myoclonic seizure
HP:0003980Pseudarthrosis of the radius
HP:0003986Exostoses of the radius
HP:0001325Hypoglycemic coma
HP:0001259Coma
HP:0003985Exostoses of the ulna
HP:0001326EEG with irregular generalized spike and wave complexes
HP:0003988Long ulna
HP:0003987Fractured ulna
HP:0003982Aplasia of the ulna
HP:0001321Cerebellar hypoplasia
HP:0003981Broad radius
HP:0003984Posteriorly dislocated ulna
HP:0001338Partial agenesis of the corpus callosum
HP:0001274Agenesis of corpus callosum
HP:0003991Osteosclerosis of the ulna
HP:0003990Pointed ulna
HP:0003997Hypoplastic radial head
HP:0003996Flattened radial head
HP:0001334Communicating hydrocephalus
HP:0003998Constricted radial neck
HP:0001335Bimanual synkinesia
HP:0003993Broad ulna
HP:0003992Slender ulna
HP:0003994Dislocated wrist
HP:0001331Absent septum pellucidum
http://purl.obolibrary.org/obo/PR_P22646T-cell surface glycoprotein CD3 epsilon chain (mouse)
http://purl.obolibrary.org/obo/CL_1000708ureter adventitial cell
http://purl.obolibrary.org/obo/CL_1000601ureteral cell
http://purl.obolibrary.org/obo/CL_0002503adventitial cell
http://purl.obolibrary.org/obo/CL_0000630supportive cell
HP:0001340Enhancement of the C-reflex
HP:0001348Brisk reflexes
http://purl.obolibrary.org/obo/CHEBI_139590primary alpha-hydroxy ketone
HP:0001345Psychotic mentation
HP:0000709Psychosis
HP:0001343Kernicterus
HP:0001344Absent speech
HP:0001341Olfactory lobe agenesis
HP:0025057Abnormality of olfactory lobe morphology
http://purl.obolibrary.org/obo/CHEBI_139592tertiary alpha-hydroxy ketone
http://purl.obolibrary.org/obo/GO_0004590orotidine 5'-monophosphate => uridine 5'-monophosphate + CO2
http://purl.obolibrary.org/obo/CHEBI_139588alpha-hydroxy ketone
http://purl.obolibrary.org/obo/CHEBI_52396alpha-oxyketone
http://purl.obolibrary.org/obo/CHEBI_52395oxyketone
HP:0001351Jerk-locked premyoclonus spikes
http://purl.obolibrary.org/obo/CHEBI_139589retinoid anion
HP:0003945Irregular articular surfaces of the elbow joints
HP:0003948Irregular epiphyses of the elbow
HP:0003947Delayed elbow epiphyseal ossification
HP:0003840Delayed upper limb epiphyseal ossification
HP:0002663Delayed epiphyseal ossification
HP:0025318Ovarian carcinoma
HP:0025319Rubeosis iridis
HP:0025310Oval pupil
HP:0025311Anterior chamber cyst
HP:0025312Esophoria
HP:0025313Exophoria
HP:0025314Choroidal nevus
HP:0025315Exacerbated by head trauma
HP:0025317Cubitus varus
HP:0003942Synovial chondromatosis of the elbow
HP:0003941Stippled calcification of the elbow
HP:0003944Narrow joint spaces of the elbow
HP:0003943Abnormality of the joint spaces of the elbow
HP:0003940Osteoarthritis of the elbow
http://purl.obolibrary.org/obo/PR_000006169cell surface glycoprotein CD200 receptor 3
HP:0003957Cortical thickening of the forearm bones
HP:0003958Cross-fusion of the forearm bones
HP:0025307Acute emergence over hours
HP:0025308Acute emergence over days
HP:0025309Abnormal pupil shape
HP:0025300Malar rash
HP:0025301Nocturnal
HP:0025302Diurnal
HP:0025303Episodic
HP:0025305Quotidian
HP:0025304Periodic
HP:0031796Recurrent
HP:0025306Acute emergence over minutes
HP:0003952Sclerotic foci of metaphyses of the elbow
HP:0003854Sclerosis of metaphyses of the upper limbs
HP:0003955Bone-in-a-bone appearance of forearm
HP:0003954Angulated forearm bones
HP:0003951Distal humeral metaphyseal irregularity
HP:0003950Flared elbow metaphyses
HP:0003949Abnormality of the elbow metaphyses
HP:0003849Flared upper limb metaphysis
HP:0003856Upper limb metaphyseal widening
HP:0001308Tongue fasciculations
HP:0001305Dandy-Walker malformation
HP:0002350Cerebellar cyst
HP:0002198Dilated fourth ventricle
http://purl.obolibrary.org/obo/CL_1000746glomerular cell
http://purl.obolibrary.org/obo/CL_1000612kidney corpuscule cell
HP:0003964Osteoporotic forearm bones
HP:0001304Torsion dystonia
HP:0003966Sclerotic foci in forearm bones
HP:0001301Chronic sensorineural polyneuropathy
HP:0003965Pseudarthrosis of the forearm bones
HP:0003960Exostoses of the forearm bones
http://purl.obolibrary.org/obo/UBERON_0006497interosseous muscle of pes
http://purl.obolibrary.org/obo/UBERON_0014378intrinsic muscle of pes
HP:0001300Parkinsonism
HP:0003979Lytic defects of the radius
HP:0003963Lytic defects of the forearm bones
HP:0003978Fractured radius
HP:0003961Fractured forearm bones
HP:0001319Neonatal hypotonia
HP:0003977Deformed radius
HP:0003959Deformed forearm bones
HP:0001312Giant somatosensory evoked potentials
HP:0003976Constricted radius
HP:0003971Broad forearm bones
HP:0003970Undermodelled forearm bones
HP:0003973Wide radioulnar joints
http://purl.obolibrary.org/obo/UBERON_0018411ligament of hip joint
http://purl.obolibrary.org/obo/UBERON_0018413facial nerve canal
http://purl.obolibrary.org/obo/CHEBI_26348prosthetic group
http://purl.obolibrary.org/obo/CHEBI_23357cofactor
HP:0025475Erythematous macule
HP:0025476Testicular lipomatosis
HP:0025477Periarticular calcification
HP:0025478Atrial standstill
HP:0025479Self-neglect
http://purl.obolibrary.org/obo/UBERON_0018415ethmoid foramen
http://purl.obolibrary.org/obo/UBERON_0006435os penis
HP:0025470Telogen effluvium
HP:0025471Congenital panfollicular nevus
http://purl.obolibrary.org/obo/UBERON_0006431xiphoid process bone
HP:0025472Recurrent plantar mycosis
http://purl.obolibrary.org/obo/UBERON_0006430xiphoid cartilage
http://purl.obolibrary.org/obo/UBERON_0002236costal cartilage
http://purl.obolibrary.org/obo/UBERON_0000398cartilage tissue of sternum
HP:0025473Hyperpigmented papule
HP:0025474Erythematous plaque
http://purl.obolibrary.org/obo/CHEBI_26338prostaglandins E
http://purl.obolibrary.org/obo/CHEBI_26333prostaglandin
http://purl.obolibrary.org/obo/CHEBI_26347prostanoid
http://purl.obolibrary.org/obo/CHEBI_23899icosanoid
HP:0025464Increased reactive oxygen species production
HP:0025466Beta 2-microglobulinuria
HP:0025469Anagen effluvium
HP:0025460High myoinositol in brain by MRS
http://purl.obolibrary.org/obo/CHEBI_38316pyrimidinecarboxylate anion
http://purl.obolibrary.org/obo/UBERON_0006440os clitoris
http://purl.obolibrary.org/obo/UBERON_0007719bone of reproductive organ
HP:0025453Delayed adrenarche
HP:0025455Decreased CSF 5-hydroxyindolacetic acid
HP:0025457Decreased CSF protein
HP:0025458Decreased CSF albumin concentration
HP:0025459Increased CSF/serum albumin ratio
http://purl.obolibrary.org/obo/CHEBI_26361protoporphyrins
http://purl.obolibrary.org/obo/CHEBI_26214porphyrins
HP:0025451Testicular adrenal rest tumor
HP:0025452Pyoderma gangrenosum
HP:0200042Skin ulcer
HP:0025444Reduced amygdala volume
HP:0025446Anomalous insertion of papillary muscle directly into anterior mitral leaflet
HP:0025448Anterior displacement of the papillary muscles
http://purl.obolibrary.org/obo/GO_0004505Defective PAH does not hydroxylate L-Phe to L-Tyr
HP:0025449Apically displaced anterolateral papillary muscle
HP:0025447Displacement of the papillary muscles
HP:0025445Morphological abnormality of the papillary muscles
HP:0025440Warm reactive autoantibody positivity
HP:0025441Achilles tendon calcification
HP:0001483Eye poking
HP:0001489Posterior vitreous detachment
HP:0001493Falciform retinal fold
HP:0001491Congenital fibrosis of extraocular muscles
HP:0001492Axenfeld anomaly
HP:0001498Carpal bone hypoplasia
HP:0001495Carpal osteolysis
http://purl.obolibrary.org/obo/PR_0000087304-hydroxyphenylpyruvate dioxygenase
http://purl.obolibrary.org/obo/GO_0004565Beta-galactosidase can also hydrolyse globosides to form cerebrosides
http://purl.obolibrary.org/obo/GO_0015925galactosidase activity
HP:0025497Coronary artery spasm
HP:0025498Aceruloplasminemia
HP:0025499Class I obesity
http://purl.obolibrary.org/obo/GO_0004556Digestion of branched starch (amylopectin) by extracellular amylase
http://purl.obolibrary.org/obo/GO_0016160amylase activity
HP:0025490Myocardial bridging
HP:0025491Venous stenosis
HP:0025492Microcoria
HP:0025493Palmoplantar erythema
HP:0025494Coated aorta
HP:0025495Descending aorta hypoplasia
HP:0031934Abnormal descending aorta morphology
HP:0025496Abnormal coronary artery physiology
HP:0025486Fused labia majora
HP:0025488Detrusor sphincter dyssynergia
HP:0025489Bladder duplication
http://purl.obolibrary.org/obo/UBERON_0018405inferior alveolar nerve
http://purl.obolibrary.org/obo/UBERON_0018406mental nerve
HP:0025480Lipomyelomeningocele
HP:0025481Cervical hemivertebrae
HP:0002937Hemivertebrae
http://purl.obolibrary.org/obo/UBERON_0018408infra-orbital nerve
http://purl.obolibrary.org/obo/UBERON_0022298lower eyelid nerve
HP:0025482Positive perchlorate discharge test
HP:0025484Increased circulating thyroglobulin level
HP:0025483Abnormal circulating thyroglobulin level
HP:0025485Vaginal adenosis
http://purl.obolibrary.org/obo/CHEBI_77974food packaging gas
http://purl.obolibrary.org/obo/CHEBI_16958beta-alanine
http://purl.obolibrary.org/obo/CHEBI_33706beta-amino acid
http://purl.obolibrary.org/obo/CHEBI_77969food humectant
http://purl.obolibrary.org/obo/CHEBI_77968humectant
http://purl.obolibrary.org/obo/CHEBI_28940calciol
http://purl.obolibrary.org/obo/CHEBI_28938ammonium
http://purl.obolibrary.org/obo/CHEBI_60242monovalent inorganic cation
http://purl.obolibrary.org/obo/CHEBI_50313onium cation
http://purl.obolibrary.org/obo/CHEBI_50312onium compound
http://purl.obolibrary.org/obo/CHEBI_77941EC 3.5.1.4 (amidase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_16947citrate(3-)
http://purl.obolibrary.org/obo/CHEBI_27092tricarboxylic acid trianion
http://purl.obolibrary.org/obo/CHEBI_16990bilirubin IXalpha
http://purl.obolibrary.org/obo/CHEBI_16995oxalic acid
http://purl.obolibrary.org/obo/CHEBI_16997propane-1,2-diol
http://purl.obolibrary.org/obo/CHEBI_26284propane-1,2-diols
http://purl.obolibrary.org/obo/CHEBI_26288propanediol
http://purl.obolibrary.org/obo/CHEBI_13643glycol
http://purl.obolibrary.org/obo/CHEBI_23824diol
http://purl.obolibrary.org/obo/BFO_0000006spatial region
http://purl.obolibrary.org/obo/CHEBI_28976carbonic acid
http://purl.obolibrary.org/obo/CHEBI_14321glutamate(1-)
http://purl.obolibrary.org/obo/CHEBI_41941(3,4-dihydroxyphenyl)acetic acid
http://purl.obolibrary.org/obo/PR_O14638PR:O14638 located_in GO:0005886
http://purl.obolibrary.org/obo/BFO_0000031generically dependent continuant
http://purl.obolibrary.org/obo/BFO_0000034function
http://purl.obolibrary.org/obo/BFO_0000016disposition
http://purl.obolibrary.org/obo/BFO_0000023role
http://purl.obolibrary.org/obo/BFO_0000017realizable entity
http://purl.obolibrary.org/obo/CL_1000803kidney inner medulla interstitial cell
http://purl.obolibrary.org/obo/CL_1000617kidney inner medulla cell
http://purl.obolibrary.org/obo/CL_1000682kidney medulla interstitial cell
http://purl.obolibrary.org/obo/CL_1000500kidney interstitial cell
http://purl.obolibrary.org/obo/CHEBI_16919creatine
http://purl.obolibrary.org/obo/CHEBI_169245-oxo-D-proline
http://purl.obolibrary.org/obo/CHEBI_89843methylsuccinic acid
HP:0001449Duplication of metatarsal bones
HP:0001444Autosomal dominant somatic cell mutation
HP:0001445Abnormality of the hip-girdle musculature
HP:0001442Somatic mosaicism
HP:0001443Abnormality of the gluteal musculature
HP:0001440Metatarsal synostosis
HP:0001450Y-linked inheritance
HP:0001452Autosomal dominant contiguous gene syndrome
http://purl.obolibrary.org/obo/PR_P09564T-cell antigen CD7 (human)
HP:0001466Contiguous gene syndrome
HP:0001465Amyotrophy involving the shoulder musculature
http://purl.obolibrary.org/obo/CHEBI_63248oxidising agent
http://purl.obolibrary.org/obo/GO_0016447somatic recombination of immunoglobulin gene segments
http://purl.obolibrary.org/obo/GO_0016445somatic diversification of immunoglobulins
HP:0001477Compensatory chin elevation
HP:0031705Compensatory head posture
HP:0001475Male-limited autosomal dominant
HP:0001470Sex-limited autosomal dominant
HP:0000006Autosomal dominant inheritance
HP:0001476Delayed closure of the anterior fontanelle
HP:0000270Delayed cranial suture closure
HP:0001473Metatarsal osteolysis
HP:0001474Sclerotic scapulae
HP:0001408Bile duct proliferation
HP:0001409Portal hypertension
HP:0001406Intrahepatic cholestasis
HP:0031865Abnormal liver physiology
HP:0001396Cholestasis
HP:0001407Hepatic cysts
HP:0006706Cystic liver disease
HP:0001404Hepatocellular necrosis
HP:0002605Hepatic necrosis
HP:0001405Periportal fibrosis
HP:0001395Hepatic fibrosis
HP:0025431Staccato cry
HP:0025432Acanthoma
HP:0025433Decreased lecithin cholesterol acyl transferase level
HP:0025434Reduced hemolytic complement activity
HP:0025435Increased lactate dehydrogenase level
HP:0025436Elevated serum 11-deoxycortisol
HP:0025437Macrocephalic sperm head
HP:0001402Hepatocellular carcinoma
HP:0002896Neoplasm of the liver
HP:0001403Macrovesicular hepatic steatosis
http://purl.obolibrary.org/obo/UBERON_0006356epigastric vein
HP:0001401Intrahepatic biliary dysgenesis
http://purl.obolibrary.org/obo/UBERON_0006355superior vesical vein
http://purl.obolibrary.org/obo/UBERON_0002460vesical vein
HP:0025430High-pitched cry
http://purl.obolibrary.org/obo/CL_1000892kidney capillary endothelial cell
http://purl.obolibrary.org/obo/CL_0000071blood vessel endothelial cell
http://purl.obolibrary.org/obo/CL_0002139endothelial cell of vascular tree
http://purl.obolibrary.org/obo/CL_0000115endothelial cell
http://purl.obolibrary.org/obo/CL_1000891kidney arterial blood vessel cell
HP:0001419X-linked recessive inheritance
http://purl.obolibrary.org/obo/GO_0016469proton-transporting two-sector ATPase complex
http://purl.obolibrary.org/obo/CL_1000893kidney venous blood vessel cell
http://purl.obolibrary.org/obo/CL_1000854kidney blood vessel cell
http://purl.obolibrary.org/obo/CL_1000504kidney medulla cell
http://purl.obolibrary.org/obo/CL_0002584renal cortical epithelial cell
http://purl.obolibrary.org/obo/CL_0002681kidney cortical cell
HP:0025428Bronchospasm
http://purl.obolibrary.org/obo/GO_0004494Defective MUT does not isomerise L-MM-CoA to SUCC-CoA
HP:0025420Diffuse alveolar hemorrhage
HP:0025421Pneumomediastinum
HP:0025422Pleural cyst
HP:0025425Laryngospasm
HP:0025424Abnormal larynx physiology
HP:0025427Abnormal bronchus physiology
HP:0001413Micronodular cirrhosis
HP:0001414Microvesicular hepatic steatosis
HP:0001397Hepatic steatosis
HP:0006561Lipid accumulation in hepatocytes
HP:0031137Storage in hepatocytes
HP:0001412Enteroviral hepatitis
HP:0006562Viral hepatitis
HP:0001410Decreased liver function
HP:0025155Abnormality of hepatobiliary system physiology
HP:0001428Somatic mutation
HP:0001427Mitochondrial inheritance
HP:0025417Patulous urethra
HP:0025418Renal cortical necrosis
HP:0025419Pulmonary pneumatocele
HP:0025410Splenogonadal fusion
HP:0025413Fossa navicularis urethral stricture
HP:0025414Pendulous urethral stricture
HP:0025415Bulbar urethral stricture
HP:0012227Urethral stricture
HP:0008661Urethral stenosis
HP:0025416Vaginal stricture
HP:0001425Heterogeneous
HP:0001423X-linked dominant inheritance
HP:0001417X-linked inheritance
HP:0025406Asthenia
HP:0025407Rectourethral fistula
HP:0100590Rectal fistula
HP:0010480Urethral fistula
HP:0025400Nodular-random pattern on pulmonary HRCT
HP:0025401Staring gaze
HP:0025402Square-wave jerks
HP:0025403Stooped posture
HP:0025405Visual fixation instability
HP:0001433Hepatosplenomegaly
HP:0002240Hepatomegaly
HP:0025597Inferior oblique muscle restriction
HP:0025598Inferior oblique muscle weakness
HP:0025599Inferior oblique muscle overaction
HP:0025596Abnormal inferior oblique muscle physiology
http://purl.obolibrary.org/obo/GO_0004854xanthine dehydrogenase activity
HP:0025593Superior oblique muscle restriction
HP:0025594Superior oblique muscle overaction
HP:0025595Superior oblique muscle underaction
HP:0025592Superior oblique muscle weakness
HP:0025591Abnormal superior oblique muscle physiology
HP:0031739Abnormal oblique muscle physiology
http://purl.obolibrary.org/obo/UBERON_0018302upper molar 1
http://purl.obolibrary.org/obo/UBERON_0018376molar tooth 1
http://purl.obolibrary.org/obo/UBERON_0018303adrenal tissue
http://purl.obolibrary.org/obo/UBERON_0008989submocosal esophageal gland
HP:0025589Cyclodeviation
http://purl.obolibrary.org/obo/UBERON_0008987renal parenchyma
http://purl.obolibrary.org/obo/UBERON_0006322inferior rectus extraocular muscle
http://purl.obolibrary.org/obo/GO_00168312-amino-3-carboxymuconate semialdehyde => 2-aminomuconate semialdehyde + CO2
HP:0025581Foveal hemorrhage
http://purl.obolibrary.org/obo/UBERON_0006321superior oblique extraocular muscle
http://purl.obolibrary.org/obo/GO_00168302-hydroxyphytanoyl-CoA => pristanal + formyl-CoA
HP:0025582Submacular hemorrhage
HP:0025243Subretinal hemorrhage
http://purl.obolibrary.org/obo/UBERON_0006320inferior oblique extraocular muscle
http://purl.obolibrary.org/obo/UBERON_0006532oblique extraocular muscle
HP:0025583Tapetal-like fundal reflex
http://purl.obolibrary.org/obo/GO_0016857FUOM isomerises alpha-Fuc to beta-Fuc
http://purl.obolibrary.org/obo/GO_0016854racemase and epimerase activity
http://purl.obolibrary.org/obo/UBERON_0006339third ventricle choroid plexus stroma
http://purl.obolibrary.org/obo/UBERON_0006338lateral ventricle choroid plexus stroma
HP:0025574Macular hemorrhage
HP:0000573Retinal hemorrhage
HP:0031803Fundus hemorrhage
HP:0025578Aortic valve prolapse
http://purl.obolibrary.org/obo/UBERON_0008998vasculature of brain
http://purl.obolibrary.org/obo/UBERON_0008995nucleus of cerebellar nuclear complex
http://purl.obolibrary.org/obo/UBERON_0006333snout
http://purl.obolibrary.org/obo/CHEBI_36044antiviral drug
http://purl.obolibrary.org/obo/CHEBI_36043antimicrobial drug
http://purl.obolibrary.org/obo/CHEBI_35441antiinfective agent
HP:0025570Choroidal vascular hyperpermeability
HP:0025571Christmas tree cataract
HP:0025572Punctal stenosis
http://purl.obolibrary.org/obo/GO_0016861intramolecular oxidoreductase activity, interconverting aldoses and ketoses
http://purl.obolibrary.org/obo/GO_0016860Isomerization of 3-trans-decenoyl-CoA to form trans-dec-2-enoyl-CoA
http://purl.obolibrary.org/obo/SO_0000418signal_peptide
HP:0025573Mild myopia
http://purl.obolibrary.org/obo/UBERON_0018321foramen for glossopharyngeal nerve
http://purl.obolibrary.org/obo/UBERON_0006349epigastric artery
http://purl.obolibrary.org/obo/UBERON_0018326ilioischiadic foramen
HP:0025563Anterior chamber cells grade 0
HP:0025564Anterior chamber cells grade 2+
HP:0025565Anterior chamber cells grade 3+
HP:0025566Anterior chamber cells grade 4+
HP:0025567Central serous chorioretinopathy
HP:0025569Polypoidal choroidal vasculopathy
HP:0025561Anterior chamber cells grade 1+
HP:0025562Anterior chamber cells grade 0.5+
HP:0025560Anterior chamber cells
http://purl.obolibrary.org/obo/UBERON_0006340fourth ventricle choroid plexus stroma
http://purl.obolibrary.org/obo/UBERON_0005206choroid plexus stroma
http://purl.obolibrary.org/obo/CHEBI_36063oxytocic
http://purl.obolibrary.org/obo/GO_1904099negative regulation of protein O-linked glycosylation
http://purl.obolibrary.org/obo/GO_0060051negative regulation of protein glycosylation
http://purl.obolibrary.org/obo/GO_0031400negative regulation of protein modification process
http://purl.obolibrary.org/obo/CHEBI_51689enone
http://purl.obolibrary.org/obo/GO_0002244hematopoietic progenitor cell differentiation
http://purl.obolibrary.org/obo/CHEBI_51688enal
http://purl.obolibrary.org/obo/GO_0016868intramolecular transferase activity, phosphotransferases
http://purl.obolibrary.org/obo/GO_0016866intramolecular transferase activity
http://purl.obolibrary.org/obo/GO_0016853TSTA3 dimer epimerises GDP-DHDMan to GDP-KDGal
http://purl.obolibrary.org/obo/UBERON_0008946lung parenchyma
http://purl.obolibrary.org/obo/UBERON_0008947respiratory primordium
http://purl.obolibrary.org/obo/GO_0002233leukocyte chemotaxis involved in immune response
http://purl.obolibrary.org/obo/GO_0002232leukocyte chemotaxis involved in inflammatory response
http://purl.obolibrary.org/obo/PR_000018420endoglin, signal peptide removed form
http://purl.obolibrary.org/obo/GO_0002228natural killer cell mediated immunity
http://purl.obolibrary.org/obo/GO_0045087innate immune response
http://purl.obolibrary.org/obo/GO_1904068G protein-coupled receptor signaling pathway involved in social behavior
http://purl.obolibrary.org/obo/UBERON_0008969dental follicle
http://purl.obolibrary.org/obo/UBERON_0006306ulna cartilage element
http://purl.obolibrary.org/obo/UBERON_0006304future trigeminal ganglion
http://purl.obolibrary.org/obo/GO_0002253activation of immune response
http://purl.obolibrary.org/obo/GO_0002246wound healing involved in inflammatory response
http://purl.obolibrary.org/obo/PR_000018405carcinoembryonic antigen-related cell adhesion molecule 8, signal peptide removed form
http://purl.obolibrary.org/obo/UBERON_0008909perichordal bone
http://purl.obolibrary.org/obo/UBERON_0012075replacement bone
http://purl.obolibrary.org/obo/UBERON_0010522replacement element
http://purl.obolibrary.org/obo/CHEBI_26649serine derivative
http://purl.obolibrary.org/obo/CHEBI_26667sialic acid
http://purl.obolibrary.org/obo/CHEBI_25508neuraminic acids
http://purl.obolibrary.org/obo/CHEBI_63394ketoaldonic acid derivative
http://purl.obolibrary.org/obo/CHEBI_63367monosaccharide derivative
http://purl.obolibrary.org/obo/CHEBI_28963amino sugar
http://purl.obolibrary.org/obo/CHEBI_26650serine family amino acid
http://purl.obolibrary.org/obo/CHEBI_38631aminoalkylindole
http://purl.obolibrary.org/obo/PR_Q07763natural killer cell receptor 2B4 (mouse)
http://purl.obolibrary.org/obo/CHEBI_24020fat-soluble vitamin
HP:0001504Metacarpal osteolysis
http://purl.obolibrary.org/obo/GO_0051101regulation of DNA binding
HP:00015016 metacarpals
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6081INS (human)
HP:0001518Small for gestational age
HP:0001519Disproportionate tall stature
http://purl.obolibrary.org/obo/UBERON_0018299mandibular symphyseal tooth
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6024IL7R (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6017IL5RA (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6012IL3RA (human)
http://purl.obolibrary.org/obo/UBERON_0018254skeletal musculature
http://purl.obolibrary.org/obo/UBERON_0018255jejunal artery
http://purl.obolibrary.org/obo/UBERON_0018256lacrimal vein
HP:0025516Coronary-pulmonary artery fistula
HP:0025517Hypoplastic hippocampus
HP:0025518Visual gaze preference
HP:0025519Multiple biliary hamartomas
http://purl.obolibrary.org/obo/UBERON_0018251meningeal vein
http://purl.obolibrary.org/obo/UBERON_0006273otic pit
HP:0025510Nevus spilus
http://purl.obolibrary.org/obo/UBERON_0006271orbital fissure
HP:0025511Nevus sebaceus
HP:0025512Skin-colored papule
HP:0025513Scleral rupture
HP:0025514Morning glory anomaly
HP:0025515Delayed thelarche
HP:0000823Delayed puberty
http://purl.obolibrary.org/obo/UBERON_0006279pleuroperitoneal canal
HP:0001566Widely-spaced maxillary central incisors
HP:0006304Widely-spaced incisors
HP:0000699Diastema
HP:0001563Fetal polyuria
HP:0001561Polyhydramnios
http://purl.obolibrary.org/obo/UBERON_0006274tetrapod parietal bone primordium
HP:0001562Oligohydramnios
HP:0001560Abnormality of the amniotic fluid
http://purl.obolibrary.org/obo/UBERON_0018265anterior root of zygomatic arch
HP:0025505Anomalous origin of the circumflex artery from the right sinus of Valsalva
HP:0025506Coronary artery sandwich anomaly
HP:0025507Yellow papule
HP:0025508Gottron's papules
HP:0025509Piezogenic pedal papules
http://purl.obolibrary.org/obo/UBERON_0006284early prosencephalic vesicle
HP:0001571Multiple impacted teeth
http://purl.obolibrary.org/obo/UBERON_0006283future cardiac ventricle
HP:0025500Class II obesity
HP:0025501Class III obesity
HP:0025502Overweight
HP:0025503Anomalous coronary artery arising from the opposite sinus
HP:0001579Primary hypercortisolism
http://purl.obolibrary.org/obo/UBERON_0006289rib pre-cartilage condensation
http://purl.obolibrary.org/obo/GO_0016791Unknown pPPP phosphatase dephosphorylates pPPP to pPNOL
http://purl.obolibrary.org/obo/GO_0042578phosphoric ester hydrolase activity
http://purl.obolibrary.org/obo/GO_0016788Butyrylcholinesterase hydrolyzes acyl Ghrelin
http://purl.obolibrary.org/obo/UBERON_0006288rib cartilage element
http://purl.obolibrary.org/obo/UBERON_0006287radius-ulna pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0015002radius-ulna endochondral element
HP:0001575Mood changes
http://purl.obolibrary.org/obo/UBERON_0006286radius cartilage element
http://purl.obolibrary.org/obo/UBERON_0006285pubic pre-cartilage condensation
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6008IL2RA (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6009IL2RB (human)
http://purl.obolibrary.org/obo/GO_0002187mitochondrial creatine kinase complex
http://purl.obolibrary.org/obo/GO_0098798mitochondrial protein complex
http://purl.obolibrary.org/obo/GO_0002185creatine kinase complex
http://purl.obolibrary.org/obo/UBERON_0006295sternebral bone pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0006294stapes pre-cartilage condensation
http://purl.obolibrary.org/obo/PR_000018333CD2 molecule, signal peptide removed form
http://purl.obolibrary.org/obo/UBERON_0006293spleen primordium
HP:0001580Pigmented micronodular adrenocortical disease
http://purl.obolibrary.org/obo/PR_000018335T-cell surface glycoprotein CD8 alpha chain, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001084T-cell surface glycoprotein CD8 alpha chain
http://purl.obolibrary.org/obo/UBERON_0006292shoulder joint primordium
http://purl.obolibrary.org/obo/UBERON_0006291scapula pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0006290scapula cartilage element
http://purl.obolibrary.org/obo/UBERON_0015057scapula endochondral element
http://purl.obolibrary.org/obo/UBERON_0006298submandibular gland primordium
http://purl.obolibrary.org/obo/PR_000018337T-cell surface glycoprotein CD8 beta chain, signal peptide removed form
HP:0001586Vesicovaginal fistula
HP:0004320Vaginal fistula
HP:0004321Bladder fistula
http://purl.obolibrary.org/obo/UBERON_0006297sublingual gland primordium
http://purl.obolibrary.org/obo/UBERON_0017651salivary gland primordium
HP:0001583Rotary nystagmus
HP:0001593Maxillary lateral incisor microdontia
HP:0000691Microdontia
HP:0001591Bell-shaped thorax
http://purl.obolibrary.org/obo/PR_000018321CD3 epsilon, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001020CD3 epsilon
http://purl.obolibrary.org/obo/PR_000001018CD3 subunit with immunoglobulin domain
HP:0001598Concave nail
HP:0001528Hemihypertrophy
HP:0100555Asymmetric growth
HP:0001525Severe failure to thrive
http://purl.obolibrary.org/obo/UBERON_0006239future central tendon
http://purl.obolibrary.org/obo/UBERON_0006238future brain
http://purl.obolibrary.org/obo/GO_1904018positive regulation of vasculature development
HP:0025552Periorbital purpura
HP:0025553Periorbital ecchymosis with tarsal plate sparing
HP:0025554Yellow nodule
HP:0025555Periungual teleangiectasia
HP:0025558Lamellar cataract with riders
HP:0025559Coronary cataract
http://purl.obolibrary.org/obo/UBERON_0006236tetrapod frontal bone primordium
http://purl.obolibrary.org/obo/UBERON_0008896post-hyoid pharyngeal arch
http://purl.obolibrary.org/obo/UBERON_0006235foregut-midgut junction
HP:0001522Death in infancy
http://purl.obolibrary.org/obo/UBERON_0006234femur pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0015052femur endochondral element
http://purl.obolibrary.org/obo/UBERON_0005254upper leg mesenchyme
http://purl.obolibrary.org/obo/UBERON_0006233female genital tubercle
http://purl.obolibrary.org/obo/UBERON_0006232facio-acoustic VII-VIII preganglion complex
http://purl.obolibrary.org/obo/UBERON_0008895splanchnocranium
HP:0001520Large for gestational age
HP:0025550Elevated circulating ribitol concentration
HP:0025551Optic nerve misrouting
http://purl.obolibrary.org/obo/UBERON_0006230extrinsic ocular pre-muscle mass
http://purl.obolibrary.org/obo/UBERON_0006904head mesenchyme from mesoderm
http://purl.obolibrary.org/obo/GO_1904000positive regulation of eating behavior
HP:0001538Protuberant abdomen
HP:0001539Omphalocele
http://purl.obolibrary.org/obo/UBERON_0018226pulmonary part of lymphatic system
http://purl.obolibrary.org/obo/UBERON_0018227pulmonary lymphatic vessel
HP:0001537Umbilical hernia
HP:0004299Hernia of the abdominal wall
http://purl.obolibrary.org/obo/PR_000018380CD48 molecule, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000018389L-selectin, signal peptide removed form
http://purl.obolibrary.org/obo/UBERON_0006240future forebrain
HP:0025547Decreased mean corpuscular hemoglobin concentration
HP:0025548Increased mean corpuscular hemoglobin concentration
HP:0025546Abnormal mean corpuscular hemoglobin concentration
http://purl.obolibrary.org/obo/UBERON_0006248incus pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0006247iliac pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0018229renin-angiotensin system
http://purl.obolibrary.org/obo/UBERON_0006246humerus pre-cartilage condensation
HP:0001533Slender build
http://purl.obolibrary.org/obo/UBERON_0006245humerus cartilage element
http://purl.obolibrary.org/obo/UBERON_0005258upper arm mesenchyme
http://purl.obolibrary.org/obo/UBERON_0015053humerus endochondral element
HP:0001530Mild postnatal growth retardation
HP:0008897Postnatal growth retardation
http://purl.obolibrary.org/obo/UBERON_0006244hip joint primordium
HP:0001531Failure to thrive in infancy
HP:0001508Failure to thrive
http://purl.obolibrary.org/obo/UBERON_0006242gall bladder primordium
http://purl.obolibrary.org/obo/UBERON_0006241future spinal cord
http://purl.obolibrary.org/obo/UBERON_0018232axillary sweat gland
http://purl.obolibrary.org/obo/UBERON_0018234stroma of pancreas
http://purl.obolibrary.org/obo/UBERON_0018235capsule of pancreas
HP:0001548Overgrowth
HP:0025538Palmar edema
http://purl.obolibrary.org/obo/GO_0051146striated muscle cell differentiation
http://purl.obolibrary.org/obo/GO_0042692muscle cell differentiation
HP:0025530Xanthomas of the palmar creases
HP:0025531Harlequin phenomenon
HP:0025532Positive pathergy test
HP:0025533Peau d'orange
HP:0025534Ocular melanocytosis
HP:0025535Shawl sign
HP:0025536V-sign
HP:0025537Plantar edema
http://purl.obolibrary.org/obo/UBERON_0018239rhombomere boundary
HP:0001545Anteriorly placed anus
HP:0004397Ectopic anus
HP:0001543Gastroschisis
HP:0001544Prominent umbilicus
http://purl.obolibrary.org/obo/UBERON_0006256knee joint primordium
http://purl.obolibrary.org/obo/UBERON_0006255ischial pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0005256trunk mesenchyme
http://purl.obolibrary.org/obo/UBERON_0006254ischial cartilage element
HP:0001540Diastasis recti
http://purl.obolibrary.org/obo/UBERON_0018246thyroid vein
http://purl.obolibrary.org/obo/UBERON_0018247cervical thymic artery
http://purl.obolibrary.org/obo/UBERON_0018243thymic artery
HP:0025527Serpiginous cutaneous lesion
HP:0025528Annular cutaneous lesion
HP:0025529Hyperpigmented nodule
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8619PAX5 (human)
http://purl.obolibrary.org/obo/UBERON_0006262malleus pre-cartilage condensation
HP:0025520Calcinosis cutis
http://purl.obolibrary.org/obo/UBERON_0006261male genital tubercle
HP:0025521Increased body fat percentage
http://purl.obolibrary.org/obo/UBERON_0006260lingual swellings
HP:0025522Elongated chordae tendinae of the mitral valve
HP:0025524Palmoplantar scaling skin
HP:0025525Scaling skin on fingertip
HP:0025526Psoriasiform lesion
http://purl.obolibrary.org/obo/UBERON_0006268notochordal process
http://purl.obolibrary.org/obo/UBERON_0006267notochordal plate
HP:0001555Asymmetry of the thorax
HP:0001552Barrel-shaped chest
http://purl.obolibrary.org/obo/UBERON_0006266nasolacrimal groove
http://purl.obolibrary.org/obo/UBERON_0006264mouth-foregut junction
http://purl.obolibrary.org/obo/UBERON_0006263Meckel's cartilage pre-cartilage condensation
http://purl.obolibrary.org/obo/GO_0016714oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen
http://purl.obolibrary.org/obo/GO_0004497Acetaminophen oxidised to N-acetylbenzoquinoneimine (NAPQI)
HP:0011087Talon cusp
HP:0011088Dens in dente
http://purl.obolibrary.org/obo/UBERON_0008858pyloric canal
http://purl.obolibrary.org/obo/CHEBI_38560simple protein
http://purl.obolibrary.org/obo/UBERON_0008856stomach muscularis externa
http://purl.obolibrary.org/obo/UBERON_0034933layer of smooth muscle tissue
HP:0011081Incisor macrodontia
HP:0011082Conical primary incisor
HP:0011083Conical maxillary incisor
HP:0011084Hypocalcification of dental enamel
HP:0011085Hypomature dental enamel
HP:0006285Hypomineralization of enamel
HP:0011086Dentinogenesis imperfecta of primary and permanent teeth
http://purl.obolibrary.org/obo/GO_0004736Pyruvate + CO2 + ATP => ADP + Orthophosphate + Oxaloacetate
http://purl.obolibrary.org/obo/GO_0016885ligase activity, forming carbon-carbon bonds
http://purl.obolibrary.org/obo/GO_0016874ligase activity
http://purl.obolibrary.org/obo/UBERON_0008854root of molar tooth
HP:0011098Speech apraxia
http://purl.obolibrary.org/obo/GO_0016702ALOX12 oxidises LTA4 to LXA4/B4
HP:0011099Spastic hemiparesis
http://purl.obolibrary.org/obo/GO_0016701oxidoreductase activity, acting on single donors with incorporation of molecular oxygen
http://purl.obolibrary.org/obo/UBERON_0006208auditory hillocks
http://purl.obolibrary.org/obo/UBERON_0006207aortico-pulmonary spiral septum
http://purl.obolibrary.org/obo/UBERON_0004142outflow tract septum
http://purl.obolibrary.org/obo/GO_0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
http://purl.obolibrary.org/obo/UBERON_0008867trabecular network of bone
http://purl.obolibrary.org/obo/UBERON_0006206iridocorneal angle
HP:0011090Fused teeth
HP:0011091Gemination
HP:0011089Double tooth
HP:0011092Mulberry molar
HP:0011093Molarization of premolar
HP:0011080Abnormality of premolar morphology
HP:0001572Macrodontia
HP:0011094Overbite
HP:0011095Overjet
http://purl.obolibrary.org/obo/UBERON_0006204inguinal ligament
http://purl.obolibrary.org/obo/UBERON_0006203conchal part of pinna
http://purl.obolibrary.org/obo/UBERON_0008861pyloric gastric gland
http://purl.obolibrary.org/obo/UBERON_0000325gastric gland
http://purl.obolibrary.org/obo/UBERON_0006219deltoid pre-muscle mass
http://purl.obolibrary.org/obo/UBERON_0006218common atrial chamber
http://purl.obolibrary.org/obo/UBERON_0008878palmar part of manus
http://purl.obolibrary.org/obo/UBERON_0005451segment of manus
http://purl.obolibrary.org/obo/UBERON_0006217cloacal membrane
http://purl.obolibrary.org/obo/UBERON_0008876hypodermis skeletal muscle layer
http://purl.obolibrary.org/obo/UBERON_0004253skin muscle
http://purl.obolibrary.org/obo/UBERON_0006215rhombic lip
http://purl.obolibrary.org/obo/UBERON_0006214carpus pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0009523mesenchyme of handplate
http://purl.obolibrary.org/obo/UBERON_0006213carpus cartilage element
http://purl.obolibrary.org/obo/UBERON_0006211buccopharyngeal membrane
http://purl.obolibrary.org/obo/UBERON_0006210body-wall mesenchyme
http://purl.obolibrary.org/obo/UBERON_0006227ethmoid bone primordium
http://purl.obolibrary.org/obo/GO_0016726oxidoreductase activity, acting on CH or CH2 groups, NAD or NADP as acceptor
http://purl.obolibrary.org/obo/GO_0016725oxidoreductase activity, acting on CH or CH2 groups
http://purl.obolibrary.org/obo/CHEBI_63533gonadotropin releasing hormone agonist
http://purl.obolibrary.org/obo/CHEBI_51060hormone agonist
http://purl.obolibrary.org/obo/CHEBI_51061hormone receptor modulator
http://purl.obolibrary.org/obo/CHEBI_90710receptor modulator
http://purl.obolibrary.org/obo/UBERON_0008887rectal venous plexus
http://purl.obolibrary.org/obo/UBERON_0008885right putamen
http://purl.obolibrary.org/obo/UBERON_0006224elbow joint primordium
http://purl.obolibrary.org/obo/UBERON_0008886pulmonary vascular system
http://purl.obolibrary.org/obo/UBERON_0006222future diencephalon
http://purl.obolibrary.org/obo/UBERON_0008884left putamen
http://purl.obolibrary.org/obo/UBERON_0008882spinal cord commissure
http://purl.obolibrary.org/obo/UBERON_0007699tract of spinal cord
http://purl.obolibrary.org/obo/GO_0016758transferase activity, transferring hexosyl groups
http://purl.obolibrary.org/obo/GO_0016757B3GALTL transfers glucose to O-fucosyl-proteins
HP:0011044Abnormal number of permanent teeth
HP:0011045Agenesis of permanent maxillary central incisor
http://purl.obolibrary.org/obo/UBERON_0008816embryonic head
http://purl.obolibrary.org/obo/UBERON_0000033head
HP:0011046Agenesis of primary maxillary central incisor
HP:0006293Agenesis of maxillary central incisor
http://purl.obolibrary.org/obo/UBERON_0008817thymus primordium endoderm
HP:0011047Agenesis of primary mandibular central incisor
http://purl.obolibrary.org/obo/UBERON_0008814pharyngeal arch system
HP:0011048Agenesis of permanent mandibular central incisor
HP:0006355Agenesis of mandibular central incisor
HP:0200161Agenesis of mandibular incisor
HP:0006289Agenesis of central incisor
HP:0011049Agenesis of primary maxillary lateral incisor
HP:0006481Abnormality of primary teeth
HP:0011041Aplasia/Hypoplasia of the cervical spine
HP:0011042Abnormal blood potassium concentration
http://purl.obolibrary.org/obo/UBERON_0008810nasopalatine nerve
http://purl.obolibrary.org/obo/UBERON_0008811intromittent organ
http://purl.obolibrary.org/obo/PR_000018315integrin alpha-M, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001012integrin alpha-M
http://purl.obolibrary.org/obo/PR_000001005integrin alpha with A domain
http://purl.obolibrary.org/obo/GO_0016747transferase activity, transferring acyl groups other than amino-acyl groups
http://purl.obolibrary.org/obo/GO_0016746Chenodeoxycholoyl CoA reacts with glycine or taurine to form glycochenodeoxycholate or taurochenodeoxycholate
HP:0011056Agenesis of first permanent molar tooth
HP:0011057Agenesis of second permanent molar
HP:0011055Agenesis of permanent molar
HP:0011054Agenesis of molar
HP:0011058Generalized periodontitis
HP:0011059Localized periodontitis
HP:0000704Periodontitis
http://purl.obolibrary.org/obo/UBERON_0008823neural tube derived brain
http://purl.obolibrary.org/obo/UBERON_0000955brain
http://purl.obolibrary.org/obo/UBERON_0008824duct of epididymis
HP:0011050Agenesis of permanent maxillary lateral incisor
HP:0000690Agenesis of maxillary lateral incisor
HP:0200153Agenesis of lateral incisor
HP:0200160Agenesis of maxillary incisor
HP:0006485Agenesis of incisor
HP:0011052Agenesis of maxillary premolar
HP:0011053Agenesis of mandibular premolar
HP:0011051Agenesis of premolar
HP:0000674Anodontia
HP:0001592Selective tooth agenesis
http://purl.obolibrary.org/obo/PR_000018300CD19 molecule, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001002CD19 molecule
http://purl.obolibrary.org/obo/PR_000018302CD34 molecule, signal peptide removed form
HP:0011065Conical incisor
HP:0000698Conical tooth
HP:0011067Mesiodens
HP:0011068Odontoma
HP:0100612Odontogenic neoplasm
HP:0011069Increased number of teeth
http://purl.obolibrary.org/obo/UBERON_0008836liver bud
http://purl.obolibrary.org/obo/UBERON_0008835hepatic diverticulum
http://purl.obolibrary.org/obo/UBERON_0004185endodermal part of digestive tract
http://purl.obolibrary.org/obo/UBERON_0009854digestive tract diverticulum
HP:0011060Dentinogenesis imperfecta limited to primary teeth
HP:0000703Dentinogenesis imperfecta
HP:0010299Abnormality of dentin
http://purl.obolibrary.org/obo/PR_P36888receptor-type tyrosine-protein kinase FLT3 (human)
HP:0011063Abnormality of incisor morphology
HP:0011064Abnormal number of incisors
http://purl.obolibrary.org/obo/CHEBI_63561ketoaldonate derivative
http://purl.obolibrary.org/obo/PR_P09242alkaline phosphatase, tissue-nonspecific isozyme (mouse)
http://purl.obolibrary.org/obo/UBERON_0008833great auricular nerve
http://purl.obolibrary.org/obo/GO_0016769transferase activity, transferring nitrogenous groups
HP:0011076Abnormality of premolar
HP:0011078Abnormality of canine
HP:0011079Impacted tooth
HP:0000706Unerupted tooth
HP:0006292Abnormality of dental eruption
HP:0011071Abnormality of permanent molar morphology
HP:0011070Abnormality of molar morphology
HP:0011077Abnormality of molar
HP:0011072Rootless teeth
HP:0011074Localized hypoplasia of dental enamel
HP:0006297Hypoplasia of dental enamel
HP:0000685Hypoplasia of teeth
HP:0011075Green teeth
http://purl.obolibrary.org/obo/CHEBI_63571trisaccharide derivative
http://purl.obolibrary.org/obo/UBERON_0008843gubernaculum testis
http://purl.obolibrary.org/obo/UBERON_0008844gubernaculum (female)
http://purl.obolibrary.org/obo/UBERON_0004346gubernaculum (male or female)
http://purl.obolibrary.org/obo/UBERON_0008842suspensory ligament of testis
http://purl.obolibrary.org/obo/UBERON_0008841suspensory ligament
http://purl.obolibrary.org/obo/GO_0016774phosphotransferase activity, carboxyl group as acceptor
http://purl.obolibrary.org/obo/GO_0016772transferase activity, transferring phosphorus-containing groups
http://purl.obolibrary.org/obo/GO_0016740GTPBP3 and MTO1 transform uridine-34 yielding 5-taurinomethyluridine-34 in tRNA
http://purl.obolibrary.org/obo/PR_000021935immature protein part
http://purl.obolibrary.org/obo/BFO_0000024fiat object part
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18171CD244 (human)
http://purl.obolibrary.org/obo/UBERON_0008805gingival groove
http://purl.obolibrary.org/obo/UBERON_0008803skin of cheek
http://purl.obolibrary.org/obo/UBERON_0008801parotid gland primordium
http://purl.obolibrary.org/obo/CHEBI_26536retinoic acid
http://purl.obolibrary.org/obo/CHEBI_79020alpha,beta-unsaturated monocarboxylic acid
http://purl.obolibrary.org/obo/CHEBI_26534retinals
http://purl.obolibrary.org/obo/MOD_00693glycosylated residue
http://purl.obolibrary.org/obo/MOD_00764glycoconjugated residue
http://purl.obolibrary.org/obo/PR_000025513modified amino-acid residue
HP:0001607Subglottic stenosis
HP:0001604Vocal cord paresis
HP:0001605Vocal cord paralysis
HP:0001602Laryngeal stenosis
HP:0001601Laryngomalacia
HP:0001615Hoarse cry
HP:0001609Hoarse voice
HP:0001611Nasal speech
HP:0001612Weak cry
HP:0025429Abnormal cry
HP:0001620High pitched voice
HP:0001621Weak voice
HP:0001634Mitral valve prolapse
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8582PAH (human)
http://purl.obolibrary.org/obo/UBERON_0018132tail fat pad
http://purl.obolibrary.org/obo/UBERON_0018135fibrocollagenous connective tissue
HP:0011002Osteopetrosis
HP:0011003High myopia
HP:0011005Mixed cirrhosis
HP:0001394Cirrhosis
HP:0025637Vasospasm
HP:0025638Elevated urinary N-butyrylglycine
HP:0025639Increased urinary zinc level
HP:0025630Argininosuccinic aciduria
HP:0001681Angina pectoris
HP:0025631Alpha-aminobutyric aciduria
HP:0025632Reduced reactive oxygen species production in neutrophils
HP:0025463Abnormality of redox activity
HP:0025635Ureteral polyp
HP:0100516Neoplasm of the ureter
HP:0025636Endometritis
http://purl.obolibrary.org/obo/GO_0016684oxidoreductase activity, acting on peroxide as acceptor
HP:0001688Sinus bradycardia
HP:0011009Acute
HP:0001686Loss of voice
HP:0001684Secundum atrial septal defect
http://purl.obolibrary.org/obo/GO_1904171negative regulation of bleb assembly
http://purl.obolibrary.org/obo/GO_0014020primary neural tube formation
http://purl.obolibrary.org/obo/GO_0001838embryonic epithelial tube formation
http://purl.obolibrary.org/obo/GO_0072175epithelial tube formation
http://purl.obolibrary.org/obo/GO_0035148tube formation
HP:0001685Myocardial fibrosis
http://purl.obolibrary.org/obo/GO_1904172positive regulation of bleb assembly
http://purl.obolibrary.org/obo/GO_1904170regulation of bleb assembly
http://purl.obolibrary.org/obo/UBERON_0018143transverse process of cervical vertebra
HP:0011010Chronic
HP:0011011Subacute
HP:0011008Temporal pattern
http://purl.obolibrary.org/obo/UBERON_0018144cervical rib
http://purl.obolibrary.org/obo/UBERON_0018145lumbar rib
http://purl.obolibrary.org/obo/UBERON_0002228rib
http://purl.obolibrary.org/obo/UBERON_0015019rib endochondral element
HP:0011012Abnormal circulating polysaccharide concentration
http://purl.obolibrary.org/obo/UBERON_0018146transverse process of lumbar vertebra
http://purl.obolibrary.org/obo/UBERON_0018149angle of oral opening
HP:0025626Increased circulating oleate level
HP:0025627Increased circulating octadecanoate level
HP:0025628Increased circulating myristoleate level
HP:0025629Anti-myelin-associated glycoprotein antibody positivity
HP:0001691Muscular subvalvular aortic stenosis
HP:0025620Abnormal proportion of CD4+ central memory cells
http://purl.obolibrary.org/obo/PR_P10300T-cell surface glycoprotein CD8 beta chain (mouse)
http://purl.obolibrary.org/obo/CHEBI_63473aromatic amino-acid anion
HP:0025624Reduced proportion of CD4+ effector memory T cells
http://purl.obolibrary.org/obo/CHEBI_63471branched-chain amino-acid anion
HP:0025625Elevated proportion of CD4+ effector memory T cells
HP:0025623Abnormal proportion of CD4+ effector memory cells
HP:0001699Sudden death
http://purl.obolibrary.org/obo/CHEBI_63477iodothyroninate
http://purl.obolibrary.org/obo/GO_0016670oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor
http://purl.obolibrary.org/obo/GO_0016667Reduction of disulphide bonds in MHC II antigens
HP:0001696Situs inversus totalis
HP:0001694Right-to-left shunt
HP:0001693Cardiac shunt
http://purl.obolibrary.org/obo/UBERON_0018156malleal ligament
http://purl.obolibrary.org/obo/UBERON_0018154ligament of middle ear
HP:0011023Abnormal circulating prostaglandin circulation
http://purl.obolibrary.org/obo/GO_0014039negative regulation of Schwann cell differentiation
HP:0025616Sterile abscess
http://purl.obolibrary.org/obo/PR_Q5GIT4vascular endothelial growth factor receptor 2 (zebrafish)
HP:0025618Reduced plasma cell count
http://purl.obolibrary.org/obo/UBERON_0018150skin of lower lip
HP:0025619Elevated plasma cell count
HP:0025617Abnormal plasma cell count
http://purl.obolibrary.org/obo/UBERON_0018151skin of upper lip
HP:0011020Abnormality of mucopolysaccharide metabolism
HP:0004371Abnormality of glycosaminoglycan metabolism
http://purl.obolibrary.org/obo/PR_P09326CD48 antigen (human)
http://purl.obolibrary.org/obo/GO_0099003vesicle-mediated transport in synapse
http://purl.obolibrary.org/obo/GO_0014040positive regulation of Schwann cell differentiation
http://purl.obolibrary.org/obo/GO_0014038regulation of Schwann cell differentiation
HP:0025611Epicanthus superciliaris
HP:0000286Epicanthus
http://purl.obolibrary.org/obo/UBERON_0006170mesonephric capsule
http://purl.obolibrary.org/obo/UBERON_0002015kidney capsule
HP:0025612Corneal astigmatism
http://purl.obolibrary.org/obo/GO_0014044Schwann cell development
http://purl.obolibrary.org/obo/GO_0021782glial cell development
HP:0011037Decreased urine output
HP:0012590Abnormal urine output
HP:0025604Orbital schwannoma
HP:0025605Lid lag on downgaze
HP:0025606Abnormal medial rectus muscle physiology
HP:0031740Abnormal horizontal rectus muscle physiology
HP:0025607Upper eyelid entropion
HP:0000621Entropion
HP:0025608Cicatricial ectropion
HP:0025609Anterior blepharitis
http://purl.obolibrary.org/obo/UBERON_0006183mesonephric glomerular capillary
http://purl.obolibrary.org/obo/UBERON_0004212glomerular capillary
HP:0025602Inferior rectus muscle restriction
HP:0025601Inferior rectus muscle weakness
HP:0025600Abnormal inferior rectus muscle physiology
HP:0025603Abnormal superior rectus muscle physiology
HP:0031748Abnormal vertical rectus muscle physiology
HP:0031755Abnormal rectus muscle physiology
HP:0025590Abnormal extraocular muscle physiology
http://www.informatics.jax.org/marker/MGI:2143702Enpp3 (mouse)
http://purl.obolibrary.org/obo/GO_0014037Schwann cell differentiation
http://purl.obolibrary.org/obo/PR_P22304iduronate 2-sulfatase (human)
http://purl.obolibrary.org/obo/PR_000008894iduronate 2-sulfatase
HP:0001648Cor pulmonale
HP:0001647Bicuspid aortic valve
HP:0031567Abnormal aortic valve cusp morphology
http://purl.obolibrary.org/obo/GO_0002087regulation of respiratory gaseous exchange by nervous system process
http://purl.obolibrary.org/obo/UBERON_0008777hypaxial musculature
HP:0001644Dilated cardiomyopathy
http://purl.obolibrary.org/obo/UBERON_0008778epaxial musculature
http://purl.obolibrary.org/obo/UBERON_0004479musculature of trunk
HP:0001645Sudden cardiac death
HP:0001695Cardiac arrest
http://purl.obolibrary.org/obo/UBERON_0008775proximal epiphysis of fibula
http://purl.obolibrary.org/obo/UBERON_0004388epiphysis of fibula
http://purl.obolibrary.org/obo/GO_0014063negative regulation of serotonin secretion
http://purl.obolibrary.org/obo/GO_0043271negative regulation of ion transport
HP:0001640Cardiomegaly
http://purl.obolibrary.org/obo/GO_0014064positive regulation of serotonin secretion
http://purl.obolibrary.org/obo/GO_0014062regulation of serotonin secretion
http://purl.obolibrary.org/obo/GO_0043270positive regulation of ion transport
http://purl.obolibrary.org/obo/GO_0043269regulation of ion transport
http://purl.obolibrary.org/obo/UBERON_0008772proximal epiphysis of tibia
http://purl.obolibrary.org/obo/UBERON_0004383epiphysis of tibia
HP:0001659Aortic regurgitation
HP:0001658Myocardial infarction
http://purl.obolibrary.org/obo/UBERON_0008780inner cell mass derived epiblast
http://purl.obolibrary.org/obo/UBERON_0002532epiblast (generic)
http://purl.obolibrary.org/obo/UBERON_0006127funiculus of spinal cord
http://purl.obolibrary.org/obo/UBERON_0008788posterior cranial fossa
HP:0001655Patent foramen ovale
http://purl.obolibrary.org/obo/UBERON_0008789cranial fossa
http://purl.obolibrary.org/obo/UBERON_0004704bone fossa
HP:0001653Mitral regurgitation
HP:0001651Dextrocardia
http://purl.obolibrary.org/obo/UBERON_0008783dorsal venous arch
HP:0001650Aortic valve stenosis
HP:0031652Abnormal aortic valve physiology
http://purl.obolibrary.org/obo/UBERON_0018111muscle layer of rectum
http://purl.obolibrary.org/obo/UBERON_0018112rectum smooth muscle tissue
http://purl.obolibrary.org/obo/UBERON_0016886muscle tissue of terminal part of digestive tract
http://purl.obolibrary.org/obo/UBERON_0004231anal region smooth muscle
http://purl.obolibrary.org/obo/UBERON_0004220large intestine smooth muscle
http://purl.obolibrary.org/obo/UBERON_0018115left renal pelvis
http://purl.obolibrary.org/obo/UBERON_0018116right renal pelvis
http://purl.obolibrary.org/obo/GO_1904115axon cytoplasm
http://purl.obolibrary.org/obo/UBERON_0018117left renal cortex interstitium
HP:0001669Transposition of the great arteries
http://purl.obolibrary.org/obo/UBERON_0018118right renal cortex interstitium
http://purl.obolibrary.org/obo/UBERON_0005270renal cortex interstitium
http://purl.obolibrary.org/obo/UBERON_0018119left renal medulla interstitium
http://purl.obolibrary.org/obo/UBERON_0018113left kidney interstitium
http://purl.obolibrary.org/obo/UBERON_0006136unmyelinated nerve fiber
HP:0001664Torsade de pointes
http://purl.obolibrary.org/obo/UBERON_0006135myelinated nerve fiber
HP:0001662Bradycardia
HP:0001663Ventricular fibrillation
http://purl.obolibrary.org/obo/UBERON_0006133funiculus of neuraxis
http://purl.obolibrary.org/obo/GO_1904100positive regulation of protein O-linked glycosylation
http://purl.obolibrary.org/obo/GO_0060050positive regulation of protein glycosylation
http://purl.obolibrary.org/obo/GO_0031401positive regulation of protein modification process
http://purl.obolibrary.org/obo/GO_1904098regulation of protein O-linked glycosylation
http://purl.obolibrary.org/obo/GO_0060049regulation of protein glycosylation
http://purl.obolibrary.org/obo/GO_0031399regulation of protein modification process
http://purl.obolibrary.org/obo/UBERON_0018120right renal medulla interstitium
http://purl.obolibrary.org/obo/UBERON_0018114right kidney interstitium
http://purl.obolibrary.org/obo/UBERON_0005211renal medulla interstitium
http://purl.obolibrary.org/obo/UBERON_0005215kidney interstitium
http://purl.obolibrary.org/obo/UBERON_0005169interstitial tissue
HP:0025641Elevated circulating glycolate concentration
HP:0001670Asymmetric septal hypertrophy
HP:0025643Tarlov cyst
HP:0001674Complete atrioventricular canal defect
HP:3000043Abnormal facial vein morphology
HP:3000047Abnormal glossopharyngeal nerve morphology
http://purl.obolibrary.org/obo/GO_0002442serotonin secretion involved in inflammatory response
http://purl.obolibrary.org/obo/GO_0001820serotonin secretion
http://purl.obolibrary.org/obo/GO_0006837serotonin transport
http://purl.obolibrary.org/obo/GO_0015850organic hydroxy compound transport
http://purl.obolibrary.org/obo/GO_0015844monoamine transport
HP:3000046Abnormality of geniohyoid muscle
HP:3000045Abnormality of genioglossus muscle
http://purl.obolibrary.org/obo/GO_0002441histamine secretion involved in inflammatory response
http://purl.obolibrary.org/obo/GO_0001821histamine secretion
HP:3000044Abnormality of frontal process of maxilla
http://purl.obolibrary.org/obo/PR_Q6DYE8ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (mouse)
http://purl.obolibrary.org/obo/PR_000001344ectonucleotide pyrophosphatase/phosphodiesterase family member 3
HP:3000049Abnormal greater palatine artery morphology
HP:3000048Abnormal great auricular nerve morphology
HP:3000032Abnormality of central retinal artery
HP:3000031Abnormality of anterior ethmoidal artery
HP:3000035Abnormality of cervical plexus
http://purl.obolibrary.org/obo/PR_000018620CD27 molecule, signal peptide removed form
HP:3000039Abnormality of dorsal nasal artery
HP:3000038Abnormal cricoid cartilage morphology
HP:3000021Abnormality of buccal fat pad
HP:3000020Abnormality of zygomaticus minor muscle
http://purl.obolibrary.org/obo/GO_0002465peripheral tolerance induction
http://purl.obolibrary.org/obo/GO_0002461tolerance induction dependent upon immune response
HP:3000025Abnormality of ciliary ganglion
HP:3000023Abnormality of angular artery
HP:3000029Abnormality of depressor labii inferioris
HP:3000028Abnormality of depressor anguli oris muscle
HP:3000027Abnormality of buccinator muscle
http://purl.obolibrary.org/obo/GO_0002456T cell mediated immunity
HP:3000010Abnormality of orbicularis oris muscle
HP:3000014Abnormality of procerus muscle
HP:3000013Abnormality of platysma
HP:3000012Abnormality of palatopharyngeus muscle
HP:3000011Abnormality of palatoglossus muscle
HP:3000018Abnormality of zygomaticus major muscle
http://purl.obolibrary.org/obo/GO_0002446neutrophil mediated immunity
HP:3000017Abnormality of temporalis muscle
HP:3000016Abnormality of styloglossus muscle
http://purl.obolibrary.org/obo/GO_0002444myeloid leukocyte mediated immunity
HP:3000015Abnormality of risorius muscle
HP:0011164Vegetative auras
HP:0011168Eyelid myoclonias
HP:0011169Generalized clonic seizure
HP:3000002Abnormal inner ear epithelium morphology
HP:0011162Psychic auras
HP:3000007Abnormality of mentalis muscle
HP:3000006Abnormality of medial pterygoid muscle
HP:3000004Abnormality of frontalis muscle belly
HP:3000009Abnormality of nasalis muscle
HP:3000008Abnormality of mylohyoid muscle
HP:0011177EEG with 4-5/second background activity
HP:0011178Alpha-EEG
HP:0011170Generalized myoclonic-atonic seizure
HP:0011171Simple febrile seizure
http://purl.obolibrary.org/obo/PR_P48757gastrin (mouse)
http://purl.obolibrary.org/obo/PR_000007856gastrin
HP:0011187Focal EEG discharges with propagation to ipsilateral hemisphere
HP:0011188Focal EEG discharges with secondary generalization
HP:0011189Bilateral multifocal epileptiform discharges
http://purl.obolibrary.org/obo/UBERON_0008715muscle tissue of prostate
http://purl.obolibrary.org/obo/UBERON_0008713pectoral girdle and thoracic body wall skeletal muscle
HP:0011180Partial beta-EEG
HP:0011179Beta-EEG
HP:0011181Low voltage EEG
HP:0011183EEG with hyperventilation-induced focal epileptiform discharges
HP:0011184EEG with hyperventilation-induced generalized epileptiform discharges
HP:0011197EEG with focal spike waves
HP:0011199EEG with generalized sharp slow waves
HP:0011190Uni- and bilateral multifocal epileptiform discharges
HP:0011191Unilateral multifocal epileptiform discharges
HP:0011192Polymorphic focal epileptiform discharges
HP:0011194EEG with series of focal spikes
HP:0011193EEG with focal spikes
http://purl.obolibrary.org/obo/CHEBI_18401phenylacetate
http://purl.obolibrary.org/obo/CHEBI_18408cobamamide
HP:0001727Thromboembolic stroke
HP:0001723Restrictive cardiomyopathy
HP:0001722High-output congestive heart failure
HP:0001738Exocrine pancreatic insufficiency
HP:0012092Abnormality of exocrine pancreas physiology
HP:0001737Pancreatic cysts
HP:0001734Annular pancreas
HP:0001735Acute pancreatitis
http://purl.obolibrary.org/obo/GO_0051351positive regulation of ligase activity
http://purl.obolibrary.org/obo/GO_0051350negative regulation of lyase activity
http://purl.obolibrary.org/obo/GO_0051352negative regulation of ligase activity
HP:0001730Progressive hearing impairment
HP:0001747Accessory spleen
http://purl.obolibrary.org/obo/GO_0051348negative regulation of transferase activity
HP:0001748Polysplenia
http://purl.obolibrary.org/obo/GO_0051347positive regulation of transferase activity
HP:0001746Asplenia
HP:0010451Aplasia/Hypoplasia of the spleen
http://purl.obolibrary.org/obo/GO_0051349positive regulation of lyase activity
http://purl.obolibrary.org/obo/GO_0051340regulation of ligase activity
HP:0001744Splenomegaly
HP:0001741Phimosis
HP:0100587Abnormality of the preputium
HP:0001742Nasal obstruction
HP:0001756Vestibular hypofunction
http://purl.obolibrary.org/obo/GO_0051339regulation of lyase activity
HP:0001757High-frequency sensorineural hearing impairment
http://purl.obolibrary.org/obo/GO_0051338regulation of transferase activity
http://purl.obolibrary.org/obo/GO_0051325interphase
http://purl.obolibrary.org/obo/PATO_0002478transversely striated
http://purl.obolibrary.org/obo/PATO_0001410striated
http://purl.obolibrary.org/obo/GO_0051321meiotic cell cycle
http://purl.obolibrary.org/obo/UBERON_0006074lumbar region of vertebral column
http://purl.obolibrary.org/obo/UBERON_0006073thoracic region of vertebral column
http://purl.obolibrary.org/obo/UBERON_0006072cervical region of vertebral column
http://purl.obolibrary.org/obo/UBERON_0006071caudal region
http://purl.obolibrary.org/obo/GO_0051319G2 phase
HP:0001708Right ventricular failure
HP:0001705Right ventricular outlet tract obstruction
HP:0001706Endocardial fibroelastosis
HP:0001704Tricuspid valve prolapse
HP:0001701Pericarditis
HP:0001700Myocardial necrosis
http://purl.obolibrary.org/obo/UBERON_0006098basal nuclear complex
HP:0001716Wolff-Parkinson-White syndrome
HP:0004309Ventricular preexcitation
HP:0001717Coronary artery calcification
http://purl.obolibrary.org/obo/PATO_0002487single organismal process quality
http://purl.obolibrary.org/obo/PATO_0002486multi-organismal process quality
HP:0011120Concave nasal ridge
HP:0011126Nephroptosis
HP:0100542Abnormal localization of kidney
HP:0011127Perioral eczema
http://purl.obolibrary.org/obo/PR_000018598signal transducer CD24, signal peptide removed form
HP:0011128Acute esophageal necrosis
HP:0011129Bilateral fetal pyelectasis
HP:0011131Perianal rash
HP:0011132Chronic furunculosis
HP:0011133Increased sensitivity to ionizing radiation
HP:0011134Low-grade fever
HP:0011137Non-pruritic urticaria
http://purl.obolibrary.org/obo/PR_000018580natural killer cell receptor 2B4, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001896natural killer cell receptor 2B4
http://purl.obolibrary.org/obo/CHEBI_33937macronutrient
HP:0011130Abnormal renal calyx morphology
http://purl.obolibrary.org/obo/CHEBI_33942ribose
HP:0011139Gastric duplication
HP:0011142Age-related nuclear cataract
HP:0011143Age-related cortical cataract
HP:0011144Age-related posterior subcapsular cataract
HP:0011145Symptomatic seizures
HP:0011149Absence seizure with eyelid myoclonia
HP:0011141Age-related cataract
http://purl.obolibrary.org/obo/PR_000018574CD14 molecule, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001889CD14 molecule
http://purl.obolibrary.org/obo/UBERON_0006059falx cerebri
http://purl.obolibrary.org/obo/UBERON_0006056posterior surface of head
HP:0011150Myoclonic absence seizure
HP:0011151Atypical absence status epilepticus
HP:0011152Early onset absence seizures
HP:0011147Typical absence seizure
http://purl.obolibrary.org/obo/UBERON_0006063cartilaginous neural arch
http://purl.obolibrary.org/obo/PR_000018567leukosialin, signal peptide removed form
http://purl.obolibrary.org/obo/UBERON_0006068bone of tail
http://purl.obolibrary.org/obo/UBERON_0006067musculature of hindlimb zeugopod
http://purl.obolibrary.org/obo/UBERON_0004466musculature of leg
http://purl.obolibrary.org/obo/UBERON_0004482musculature of lower limb
http://purl.obolibrary.org/obo/UBERON_0007270pelvic appendage musculature
http://purl.obolibrary.org/obo/UBERON_0014792musculature of pelvic complex
http://purl.obolibrary.org/obo/UBERON_0004480musculature of limb
http://purl.obolibrary.org/obo/UBERON_0007271appendage musculature
http://purl.obolibrary.org/obo/GO_1904252negative regulation of bile acid metabolic process
http://purl.obolibrary.org/obo/GO_1904253positive regulation of bile acid metabolic process
http://purl.obolibrary.org/obo/GO_1904251regulation of bile acid metabolic process
HP:0001769Broad foot
http://purl.obolibrary.org/obo/CHEBI_18376dermatan sulfate
http://purl.obolibrary.org/obo/CHEBI_35722sulfated glycosaminoglycan
http://purl.obolibrary.org/obo/CHEBI_35724carbohydrate sulfate
http://purl.obolibrary.org/obo/CHEBI_25704organic sulfate
http://purl.obolibrary.org/obo/CHEBI_579485-oxo-D-prolinate
http://purl.obolibrary.org/obo/CHEBI_57947creatine zwitterion
http://purl.obolibrary.org/obo/CHEBI_70979N-isobutyrylglycine
HP:0001765Hammertoe
HP:0001776Bilateral talipes equinovarus
HP:0001762Talipes equinovarus
HP:0001775Tarsal osteovalgus
HP:0001772Talipes equinovalgus
http://purl.obolibrary.org/obo/UBERON_0006002vitelline artery
http://purl.obolibrary.org/obo/UBERON_0004365vitelline blood vessel
HP:0001773Short foot
HP:0001771Achilles tendon contracture
HP:0011102Ileal atresia
HP:0011105Hypervolemia
http://purl.obolibrary.org/obo/CHEBI_709581-methylhistidine
http://purl.obolibrary.org/obo/CHEBI_709593-methylhistidine
http://purl.obolibrary.org/obo/CHEBI_57966beta-alanine zwitterion
HP:0011106Hypovolemia
HP:0011104Abnormality of blood volume homeostasis
HP:0011107Recurrent aphthous stomatitis
HP:0010280Stomatitis
HP:0011108Recurrent sinusitis
HP:0002788Recurrent upper respiratory tract infections
HP:0001785Ankle swelling
HP:0011109Chronic sinusitis
HP:0000246Sinusitis
HP:0001786Narrow foot
HP:0001783Broad metatarsal
http://purl.obolibrary.org/obo/UBERON_0006010hyaloid canal
HP:0001782Bulbous tips of toes
HP:0011110Tonsillitis
HP:0025439Pharyngitis
HP:0011114Defective production of NFKB1-dependent cytokines
HP:0011115Abnormality of chemokine secretion
HP:0011116Abnormality of interferon secretion
http://purl.obolibrary.org/obo/PATO_0002400fusiform
http://purl.obolibrary.org/obo/PATO_0001409spindle-shaped
http://purl.obolibrary.org/obo/PATO_0002403generalized
http://purl.obolibrary.org/obo/CHEBI_18361diphosphate(4-)
http://purl.obolibrary.org/obo/CHEBI_35782diphosphate ion
HP:0001790Nonimmune hydrops fetalis
HP:0001791Fetal ascites
HP:0001541Ascites
http://purl.obolibrary.org/obo/CHEBI_57977bilirubin(2-)
http://purl.obolibrary.org/obo/CHEBI_59252linear tetrapyrrole anion
http://purl.obolibrary.org/obo/CHEBI_18367phosphate(3-)
http://purl.obolibrary.org/obo/CHEBI_79387trivalent inorganic anion
HP:0011117Abnormality of interleukin secretion
HP:0011118Abnormality of tumor necrosis factor secretion
HP:0011113Abnormality of cytokine secretion
HP:0001799Short nail
HP:0011119Abnormality of the nasal dorsum
http://purl.obolibrary.org/obo/PR_P24807signal transducer CD24 (mouse)
http://purl.obolibrary.org/obo/PR_000001932signal transducer CD24
http://purl.obolibrary.org/obo/GO_0002322B cell proliferation involved in immune response
http://purl.obolibrary.org/obo/GO_0002312B cell activation involved in immune response
http://purl.obolibrary.org/obo/PR_000018508low affinity immunoglobulin gamma Fc region receptor II, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001479low affinity immunoglobulin gamma Fc region receptor II
http://purl.obolibrary.org/obo/GO_0002309T cell proliferation involved in immune response
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4458GPI (human)
HP:0011285Long-segment aganglionic megacolon
HP:0011286Total colonic aganglionosis
HP:0011287EEG with occipital sharp slow waves
HP:0011288EEG with parietal sharp slow waves
HP:0011289EEG with temporal sharp slow waves
HP:0011284Short-segment aganglionic megacolon
HP:0002251Aganglionic megacolon
HP:0011296EEG with temporal sharp waves
HP:0011298Prominent digit pad
HP:0011299Partial absence of finger
http://purl.obolibrary.org/obo/GO_0002351serotonin production involved in inflammatory response
HP:0011290EEG with frontal sharp slow waves
HP:0011291EEG with central sharp slow waves
HP:0011195EEG with focal sharp slow waves
HP:0011292EEG with occipital sharp waves
HP:0011293EEG with central sharp waves
HP:0011294EEG with frontal sharp waves
HP:0011295EEG with parietal sharp waves
HP:0011196EEG with focal sharp waves
http://purl.obolibrary.org/obo/PR_000018545Thy-1 membrane glycoprotein, signal peptide removed form
http://purl.obolibrary.org/obo/GO_0002349histamine production involved in inflammatory response
http://purl.obolibrary.org/obo/PR_000018539T-cell surface glycoprotein CD5, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001839T-cell surface glycoprotein CD5
http://purl.obolibrary.org/obo/PR_000018537CD7 molecule, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001836CD7 molecule
http://purl.obolibrary.org/obo/CHEBI_33916aldopentose
http://purl.obolibrary.org/obo/CHEBI_25901pentose
http://purl.obolibrary.org/obo/GO_0002377immunoglobulin production
http://purl.obolibrary.org/obo/GO_0002374cytokine secretion involved in immune response
http://purl.obolibrary.org/obo/GO_0050663cytokine secretion
http://purl.obolibrary.org/obo/PR_0000185235'-nucleotidase, signal peptide removed form
http://purl.obolibrary.org/obo/GO_0002367cytokine production involved in immune response
http://purl.obolibrary.org/obo/GO_0002440production of molecular mediator of immune response
HP:0001905Congenital thrombocytopenia
HP:0001904Neutropenia in presence of anti-neutropil antibodies
HP:0001902Giant platelets
HP:0001900Increased hemoglobin
HP:0002152Hyperproteinemia
HP:0001907Thromboembolism
HP:0001908Hypoplastic anemia
http://purl.obolibrary.org/obo/PR_P22091T-cell acute lymphocytic leukemia protein 1 homolog (mouse)
HP:0001915Aplastic anemia
HP:0001912Abnormal basophil morphology
http://purl.obolibrary.org/obo/CHEBI_350546serotonin(1+)
HP:0001919Acute kidney injury
HP:0000083Renal insufficiency
http://purl.obolibrary.org/obo/GO_0004930G protein-coupled receptor activity
http://purl.obolibrary.org/obo/GO_0004888Sphingomyelinase is activated by the NGF:p75NTR complex
http://purl.obolibrary.org/obo/GO_0038023signaling receptor activity
http://purl.obolibrary.org/obo/GO_0060089molecular transducer activity
http://purl.obolibrary.org/obo/GO_0016903oxidoreductase activity, acting on the aldehyde or oxo group of donors
HP:0001848Calcaneovalgus deformity
HP:0001849Foot oligodactyly
HP:0012165Oligodactyly
HP:0001847Long hallux
HP:0010511Long toe
HP:0001845Overlapping toe
http://purl.obolibrary.org/obo/GO_0051245negative regulation of cellular defense response
http://purl.obolibrary.org/obo/GO_0110151positive regulation of biomineralization
http://purl.obolibrary.org/obo/GO_0110150negative regulation of biomineralization
http://purl.obolibrary.org/obo/GO_0110149regulation of biomineralization
HP:0001840Metatarsus adductus
HP:0001859Distal foot symphalangism
HP:0010179Symphalangism affecting the phalanges of the toes
HP:0100235Synostosis involving bones of the toes
http://purl.obolibrary.org/obo/GO_1904320positive regulation of smooth muscle contraction involved in micturition
HP:0001853Bifid distal phalanx of toe
HP:0001854Podagra
HP:0001852Sandal gap
HP:0001868Autoamputation of foot
http://purl.obolibrary.org/obo/GO_1904319negative regulation of smooth muscle contraction involved in micturition
http://purl.obolibrary.org/obo/GO_1904318regulation of smooth muscle contraction involved in micturition
http://purl.obolibrary.org/obo/GO_0098801regulation of renal system process
http://purl.obolibrary.org/obo/CHEBI_57887tryptaminium
HP:0001864Clinodactyly of the 5th toe
HP:0010344Deviation of the 5th toe
http://purl.obolibrary.org/obo/GO_0051216cartilage development
http://purl.obolibrary.org/obo/CHEBI_18287L-fucose
http://purl.obolibrary.org/obo/CHEBI_33984fucose
http://purl.obolibrary.org/obo/CHEBI_23622deoxygalactose
http://purl.obolibrary.org/obo/CHEBI_23628deoxyhexose
http://purl.obolibrary.org/obo/CHEBI_23639deoxy sugar
http://purl.obolibrary.org/obo/CHEBI_43254(4S)-4-hydroxy-3,4-dihydropyrimidin-2(1H)-one
http://purl.obolibrary.org/obo/CHEBI_38337pyrimidone
http://purl.obolibrary.org/obo/CHEBI_39447pyrimidines
http://purl.obolibrary.org/obo/CHEBI_38313diazines
http://purl.obolibrary.org/obo/GO_0051213Oxidative dealkylation of 1-EtA damaged DNA by ABH3
HP:0001876Pancytopenia
HP:0001870Acroosteolysis of distal phalanges (feet)
HP:0001842Foot acroosteolysis
HP:0010189Osteolytic defects of the distal phalanges of the toes
HP:0010177Osteolytic defects of the phalanges of the toes
HP:0001807Ridged nail
HP:0001804Hypoplastic fingernail
HP:0001802Absent toenail
HP:0001803Nail pits
HP:0001808Fragile nails
HP:0001809Split nail
HP:0001817Absent fingernail
HP:0001798Anonychia
HP:0001818Paronychia
HP:0100803Abnormality of the periungual region
HP:0001816Thin nail
HP:0001814Deep-set nails
HP:0001812Hyperconvex fingernails
HP:0001810Dystrophic toenail
HP:0001827Genital tract atresia
HP:0001824Weight loss
HP:0001822Hallux valgus
HP:0100500Fibular deviation of toes
HP:0001820Leukonychia
HP:0001821Broad nail
HP:0001839Split foot
HP:0100257Ectrodactyly
HP:0001838Rocker bottom foot
HP:0001836Camptodactyly of toe
HP:0001833Long foot
HP:0011241Serpiginous stem of antihelix
HP:0011242Underdeveloped stem of antihelix
HP:0011246Underdeveloped superior crus of antihelix
HP:0011247Prominent superior crus of antihelix
HP:0011245Abnormality of superior crus of antihelix
HP:0011248Everted antitragus
http://purl.obolibrary.org/obo/CHEBI_18211citrulline
http://purl.obolibrary.org/obo/CHEBI_23324citrullines
http://purl.obolibrary.org/obo/GO_0002284myeloid dendritic cell differentiation involved in immune response
http://purl.obolibrary.org/obo/GO_0043011myeloid dendritic cell differentiation
HP:0011240Prominent stem of antihelix
HP:0011244Abnormality of stem of antihelix
http://purl.obolibrary.org/obo/UBERON_0008572posterior crico-arytenoid
HP:0011249Absent antitragus
http://purl.obolibrary.org/obo/UBERON_0008573lateral crico-arytenoid
http://purl.obolibrary.org/obo/UBERON_0010932crico-arytenoid muscle
HP:0011253Type I cryptotia
HP:0011254Type II cryptotia
HP:0011252Cryptotia
HP:0011255Absent crus of helix
HP:0011256Crus of helix connected to antihelix
HP:0011257Serpiginous crus of helix
HP:0011258Tragal bridge of crus of helix
HP:0011259Expanded terminal portion of crus of helix
http://purl.obolibrary.org/obo/GO_0002277myeloid dendritic cell activation involved in immune response
http://purl.obolibrary.org/obo/GO_0001773myeloid dendritic cell activation
HP:0011250Bifid antitragus
HP:0011251Underdeveloped antitragus
http://purl.obolibrary.org/obo/GO_0002275myeloid cell activation involved in immune response
http://purl.obolibrary.org/obo/GO_0002274myeloid leukocyte activation
http://purl.obolibrary.org/obo/NBO_0000886increased amount of liquid in drinking regulation
http://purl.obolibrary.org/obo/GO_0002269leukocyte activation involved in inflammatory response
http://purl.obolibrary.org/obo/UBERON_0008588procerus
http://purl.obolibrary.org/obo/UBERON_0008585levator veli palatini
HP:0011263Forward facing earlobe
http://purl.obolibrary.org/obo/CHEBI_79210alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(1-)
http://purl.obolibrary.org/obo/CHEBI_79346anionic ganglioside
http://purl.obolibrary.org/obo/CHEBI_63551carbohydrate acid derivative anion
HP:0011264Discontinuous ascending root of helix
HP:0011265Cleft earlobe
HP:0011266Microtia, first degree
HP:0011267Microtia, third degree
HP:0008551Microtia
HP:0011268Absent tragus
HP:0011269Bifid tragus
HP:0011260Darwin notch of helix
HP:0011261Darwin tubercle of helix
HP:0011262Crimped helix
http://purl.obolibrary.org/obo/UBERON_0008593zygomaticus major muscle
http://purl.obolibrary.org/obo/UBERON_0008594zygomaticus minor muscle
http://purl.obolibrary.org/obo/UBERON_0010437zygomaticus muscle
http://purl.obolibrary.org/obo/UBERON_0008597depressor anguli oris muscle
http://purl.obolibrary.org/obo/UBERON_0008598risorius muscle
http://purl.obolibrary.org/obo/UBERON_0008595levator anguli oris
http://purl.obolibrary.org/obo/UBERON_0008596mentalis muscle
HP:0011275Recurrent mycobacterium avium complex infections
HP:0011274Recurrent mycobacterial infections
HP:0011278Intrapulmonary sequestration
HP:0100632Pulmonary sequestration
http://purl.obolibrary.org/obo/GO_0002292T cell differentiation involved in immune response
http://purl.obolibrary.org/obo/GO_0002286T cell activation involved in immune response
http://purl.obolibrary.org/obo/GO_0002285lymphocyte activation involved in immune response
http://purl.obolibrary.org/obo/GO_0002366leukocyte activation involved in immune response
http://purl.obolibrary.org/obo/GO_0002263cell activation involved in immune response
HP:0011270Duplicated tragus
HP:0011271Prominent tragus
HP:0011272Underdeveloped tragus
http://purl.obolibrary.org/obo/CHEBI_79209alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide
HP:0011273Anisocytosis
http://purl.obolibrary.org/obo/CHEBI_33842aromatic annulene
http://purl.obolibrary.org/obo/CHEBI_33662annulene
http://purl.obolibrary.org/obo/CHEBI_33664monocyclic hydrocarbon
HP:0011202EEG with diffuse acceleration
HP:0011204EEG with continuous slow activity
http://purl.obolibrary.org/obo/GO_0110111negative regulation of animal organ morphogenesis
http://purl.obolibrary.org/obo/GO_0110110positive regulation of animal organ morphogenesis
http://purl.obolibrary.org/obo/NBO_0000851increased amount of liquid in a single drinking act
http://purl.obolibrary.org/obo/CHEBI_18259N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosylceramide
http://purl.obolibrary.org/obo/CHEBI_88167N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide
http://purl.obolibrary.org/obo/CHEBI_23075glycotetraosylceramide
http://purl.obolibrary.org/obo/CHEBI_182583,3',5-triiodo-L-thyronine
http://purl.obolibrary.org/obo/CHEBI_18257ornithine
HP:0011205EEG with intermittent slow activity
HP:0001886Foot osteomyelitis
HP:0011206EEG with generalized slow activity grade 1
HP:0011207EEG with generalized slow activity grade 2
HP:0011208EEG with generalized slow activity grade 3
HP:0001885Short 2nd toe
HP:0011209EEG with generalized slow activity grade 4
HP:0011210EEG with occipital slowing
HP:0011211EEG with photoparoxysmal response grade I
HP:0011212EEG with photoparoxysmal response grade II
HP:3000072Abnormal levator palpebrae superioris morphology
HP:0011213EEG with photoparoxysmal response grade III
HP:3000071Abnormality of levator labii superioris
HP:0011214EEG with photoparoxysmal response grade IV
HP:0001899Increased hematocrit
HP:0031850Abnormal hematocrit
HP:3000070Abnormality of levator anguli oris
http://purl.obolibrary.org/obo/PATO_0002505nucleated
http://purl.obolibrary.org/obo/PATO_0001404nucleate quality
HP:0011215Hemihypsarrhythmia
HP:3000076Abnormality of lingual tonsil
HP:3000074Abnormal lingual artery morphology
HP:3000073Abnormality of levator veli palatini muscle
HP:3000079Abnormality of mandibular symphysis
HP:3000078Abnormal mandible coronoid process morphology
HP:0001890Autoimmune hemolytic anemia
HP:0001897Normocytic anemia
HP:0001898Increased red blood cell mass
HP:0001901Polycythemia
HP:0001895Normochromic anemia
HP:0011219Short face
HP:0000274Small face
HP:0001896Reticulocytopenia
HP:0001894Thrombocytosis
HP:0001891Iron deficiency anemia
HP:0011220Prominent forehead
HP:0011221Vertical forehead creases
HP:0011222Depressed glabella
HP:0002056Abnormality of the glabella
HP:3000061Abnormality of infra-orbital nerve
HP:0011223Metopic depression
HP:0011224Ablepharon
HP:3000060Abnormality of infraorbital artery
HP:3000065Abnormal lacrimal artery morphology
HP:3000064Abnormality of intrinsic muscle of tongue
HP:3000063Abnormality of internal jugular vein
http://purl.obolibrary.org/obo/PR_000018492glycophorin-A, signal peptide removed form
HP:3000069Abnormality of lateral rectus extra-ocular muscle
HP:3000068Abnormality of lateral pterygoid muscle
HP:3000067Abnormal lateral cricoarytenoid muscle morphology
http://purl.obolibrary.org/obo/CHEBI_33893reagent
HP:0011227Elevated C-reactive protein level
http://purl.obolibrary.org/obo/CHEBI_33892iron coordination entity
HP:0011228Horizontal eyebrow
HP:0011230Laterally extended eyebrow
HP:0011231Prominent eyelashes
HP:0011232Infra-orbital fold
HP:0011233Antihelical shelf
HP:0011234Absent antihelix
HP:0011235Additional crus of antihelix
HP:0011236Angulated antihelix
HP:0011237Broad inferior crus of antihelix
HP:3000054Abnormality of inferior alveolar artery
http://purl.obolibrary.org/obo/GO_1904348negative regulation of small intestine smooth muscle contraction
http://purl.obolibrary.org/obo/GO_1904305negative regulation of gastro-intestinal system smooth muscle contraction
http://purl.obolibrary.org/obo/GO_0045986negative regulation of smooth muscle contraction
http://purl.obolibrary.org/obo/GO_0045932negative regulation of muscle contraction
http://purl.obolibrary.org/obo/GO_1904349positive regulation of small intestine smooth muscle contraction
http://purl.obolibrary.org/obo/GO_1904347regulation of small intestine smooth muscle contraction
http://purl.obolibrary.org/obo/GO_1904306positive regulation of gastro-intestinal system smooth muscle contraction
http://purl.obolibrary.org/obo/GO_1904304regulation of gastro-intestinal system smooth muscle contraction
http://purl.obolibrary.org/obo/GO_0045987positive regulation of smooth muscle contraction
http://purl.obolibrary.org/obo/GO_0045933positive regulation of muscle contraction
http://purl.obolibrary.org/obo/GO_0006940regulation of smooth muscle contraction
http://purl.obolibrary.org/obo/CHEBI_18243dopamine
http://purl.obolibrary.org/obo/CHEBI_33567catecholamine
http://purl.obolibrary.org/obo/CHEBI_25375monoamine molecular messenger
http://purl.obolibrary.org/obo/CHEBI_63534monoamine
http://purl.obolibrary.org/obo/CHEBI_64365aralkylamino compound
http://purl.obolibrary.org/obo/CHEBI_33566catechols
http://purl.obolibrary.org/obo/CHEBI_33570benzenediols
HP:3000052Abnormality of hyoid bone
HP:3000051Abnormal hyoglossus muscle morphology
HP:3000058Abnormality of inferior rectus extraocular muscle
HP:3000057Abnormality of inferior oblique extraocular muscle
http://purl.obolibrary.org/obo/CHEBI_182404-hydroxy-L-proline
http://purl.obolibrary.org/obo/CHEBI_84186L-proline derivative
HP:3000056Abnormality of artery of lower lip
HP:3000024Abnormal facial artery morphology
HP:3000041Abnormality of external carotid artery
HP:3000055Abnormality of inferior alveolar nerve
HP:3000059Abnormal inferior thyroid vein morphology
http://purl.obolibrary.org/obo/CHEBI_18248iron atom
http://purl.obolibrary.org/obo/CHEBI_33356iron group element atom
http://purl.obolibrary.org/obo/CHEBI_33561d-block element atom
http://purl.obolibrary.org/obo/CHEBI_27081transition element atom
HP:0011238Prominent inferior crus of antihelix
HP:0011239Underdeveloped inferior crus of antihelix
HP:0011243Abnormality of inferior crus of antihelix
http://purl.obolibrary.org/obo/GO_0002678positive regulation of chronic inflammatory response
http://purl.obolibrary.org/obo/GO_0000018regulation of DNA recombination
http://purl.obolibrary.org/obo/GO_0002677negative regulation of chronic inflammatory response
http://purl.obolibrary.org/obo/GO_0002676regulation of chronic inflammatory response
http://purl.obolibrary.org/obo/GO_0002675positive regulation of acute inflammatory response
http://purl.obolibrary.org/obo/GO_0050729positive regulation of inflammatory response
http://purl.obolibrary.org/obo/GO_0000016Defective LCT does not hydrolyze Lac
http://purl.obolibrary.org/obo/GO_0004553ABHD10 hydrolyses MPAG
http://purl.obolibrary.org/obo/GO_0016798CS is cleaved from its proteoglycan
http://purl.obolibrary.org/obo/GO_2000469negative regulation of peroxidase activity
http://purl.obolibrary.org/obo/GO_0002674negative regulation of acute inflammatory response
http://purl.obolibrary.org/obo/GO_0050728negative regulation of inflammatory response
http://purl.obolibrary.org/obo/GO_0002673regulation of acute inflammatory response
http://purl.obolibrary.org/obo/GO_0050727regulation of inflammatory response
http://purl.obolibrary.org/obo/GO_0000002mitochondrial genome maintenance
http://purl.obolibrary.org/obo/GO_2000470positive regulation of peroxidase activity
http://purl.obolibrary.org/obo/GO_2000468regulation of peroxidase activity
http://purl.obolibrary.org/obo/UBERON_0008529piriformis muscle
http://purl.obolibrary.org/obo/UBERON_0002000gluteal muscle
http://purl.obolibrary.org/obo/GO_0002690positive regulation of leukocyte chemotaxis
http://purl.obolibrary.org/obo/GO_0050921positive regulation of chemotaxis
http://purl.obolibrary.org/obo/GO_0002689negative regulation of leukocyte chemotaxis
http://purl.obolibrary.org/obo/GO_0050922negative regulation of chemotaxis
http://purl.obolibrary.org/obo/GO_0002688regulation of leukocyte chemotaxis
http://purl.obolibrary.org/obo/GO_0050920regulation of chemotaxis
http://purl.obolibrary.org/obo/UBERON_0008522nasal muscle
http://purl.obolibrary.org/obo/UBERON_0008523infrahyoid muscle
http://purl.obolibrary.org/obo/CHEBI_186085-methyltetrahydrofolate(2-)
http://purl.obolibrary.org/obo/CHEBI_206125-methyltetrahydrofolate
http://purl.obolibrary.org/obo/CHEBI_25345methyltetrahydrofolate
http://purl.obolibrary.org/obo/CHEBI_67016tetrahydrofolate
http://purl.obolibrary.org/obo/CHEBI_67011folates
http://purl.obolibrary.org/obo/CHEBI_59874N-acyl-L-alpha-amino acid anion
http://purl.obolibrary.org/obo/GO_0000052citrulline metabolic process
http://purl.obolibrary.org/obo/CHEBI_16004(R)-lactate
http://purl.obolibrary.org/obo/GO_0000070mitotic sister chromatid segregation
http://purl.obolibrary.org/obo/CHEBI_7044myoglobin
http://purl.obolibrary.org/obo/GO_0051607defense response to virus
http://purl.obolibrary.org/obo/GO_0002638negative regulation of immunoglobulin production
http://purl.obolibrary.org/obo/GO_0002639positive regulation of immunoglobulin production
http://purl.obolibrary.org/obo/GO_0002637regulation of immunoglobulin production
http://purl.obolibrary.org/obo/GO_0051608histamine transport
http://purl.obolibrary.org/obo/GO_0006812cation transport
http://purl.obolibrary.org/obo/GO_0006811ion transport
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4702GYPA (human)
http://purl.obolibrary.org/obo/GO_0002660positive regulation of peripheral tolerance induction
http://purl.obolibrary.org/obo/GO_0002654positive regulation of tolerance induction dependent upon immune response
http://purl.obolibrary.org/obo/GO_0002659negative regulation of peripheral tolerance induction
http://purl.obolibrary.org/obo/GO_0002653negative regulation of tolerance induction dependent upon immune response
http://purl.obolibrary.org/obo/GO_0002658regulation of peripheral tolerance induction
http://purl.obolibrary.org/obo/GO_0002652regulation of tolerance induction dependent upon immune response
http://purl.obolibrary.org/obo/GO_0002645positive regulation of tolerance induction
http://purl.obolibrary.org/obo/GO_0002644negative regulation of tolerance induction
http://purl.obolibrary.org/obo/GO_0002643regulation of tolerance induction
HP:0001967Diffuse mesangial sclerosis
HP:0001963Abnormal speech discrimination
HP:0001962Palpitations
HP:0001960Hypokalemic metabolic alkalosis
HP:0200114Metabolic alkalosis
HP:0001978Extramedullary hematopoiesis
HP:0001976Reduced antithrombin III activity
HP:0001975Decreased platelet glycoprotein IIb-IIIa
HP:0001973Autoimmune thrombocytopenia
HP:0001970Tubulointerstitial nephritis
HP:0001971Hypersplenism
HP:0025409Abnormal spleen physiology
HP:0011300Broad fingertip
HP:0001211Abnormal fingertip morphology
HP:0001989Fetal akinesia sequence
HP:0001558Decreased fetal movement
HP:0001557Prenatal movement abnormality
HP:0011301Absent foot
http://purl.obolibrary.org/obo/GO_0051589negative regulation of neurotransmitter transport
HP:0011302Long palm
HP:0011303Convex contour of sole
HP:0001988Recurrent hypoglycemia
http://purl.obolibrary.org/obo/PATO_0000033concentration of
http://purl.obolibrary.org/obo/GO_0051590positive regulation of neurotransmitter transport
http://purl.obolibrary.org/obo/GO_0051588regulation of neurotransmitter transport
HP:0001985Hypoketotic hypoglycemia
HP:0011305Partial absence of toe
HP:0001986Hypertonic dehydration
HP:0001983Reduced lymphocyte surface expression of CD43
HP:0031383Abnormal lymphocyte surface marker expression
HP:0001984Intolerance to protein
HP:0012537Food intolerance
HP:0011307Splayed toes
HP:0011308Slender toe
HP:0001981Schistocytosis
HP:0011309Tapered toe
HP:0001982Sea-blue histiocytosis
HP:0001980Megaloblastic bone marrow
HP:0011310Bridged palmar crease
HP:0011311Sydney crease
HP:0011312Fused nails
HP:0011313Narrow nail
HP:0001998Neonatal hypoglycemia
http://purl.obolibrary.org/obo/PATO_0000025composition
HP:0001996Chronic metabolic acidosis
HP:0012468Chronic acidosis
HP:0011316Left unicoronal synostosis
HP:0001997Gout
HP:0011317Right unicoronal synostosis
HP:0011315Unicoronal synostosis
HP:0001994Renal Fanconi syndrome
HP:0011318Bicoronal synostosis
HP:0004440Coronal craniosynostosis
HP:0001995Hyperchloremic acidosis
HP:0011319Bilambdoid synostosis
HP:0500109Positive urine barbiturate test
HP:0001927Acanthocytosis
HP:0500107Isolated diastolic hypotension
HP:0500108Positive urine cocaine test
HP:0001923Reticulocytosis
HP:0004312Abnormal reticulocyte morphology
HP:0500105Decreased systolic blood pressure
http://purl.obolibrary.org/obo/GO_1904410negative regulation of secretory granule organization
HP:0500106Isolated systolic hypertension
HP:0004421Elevated systolic blood pressure
http://purl.obolibrary.org/obo/GO_1904411positive regulation of secretory granule organization
HP:0500104Decreased diastolic blood pressure
HP:0001922Vacuolated lymphocytes
http://purl.obolibrary.org/obo/GO_0051560mitochondrial calcium ion homeostasis
HP:0001929Reduced factor XI activity
HP:0001920Renal artery stenosis
HP:0008776Abnormal renal artery morphology
HP:0001937Microangiopathic hemolytic anemia
HP:0500116Positive blood barbiturate test
HP:0001934Persistent bleeding after trauma
HP:0001935Microcytic anemia
HP:0500115Increased stool urobilinogen concentration
HP:0500114Abnormal stool urobilinogen concentration
HP:0031685Abnormal stool composition
HP:0500112Positive urine amphetamine test
HP:0500113Positive urine opioid test
HP:0500110Positive urine cannabinoid test
HP:0500111Positive urine benzodiazepines test
http://purl.obolibrary.org/obo/PATO_0000047biological sex
http://purl.obolibrary.org/obo/GO_1904409regulation of secretory granule organization
http://purl.obolibrary.org/obo/PATO_0000050life span
HP:0001930Nonspherocytic hemolytic anemia
HP:0001931Hypochromic anemia
HP:0001949Hypokalemic alkalosis
HP:0001947Renal tubular acidosis
HP:0001944Dehydration
http://purl.obolibrary.org/obo/PATO_0000082persistence
http://purl.obolibrary.org/obo/PATO_0000078rhythm quality
HP:0001958Nonketotic hypoglycemia
HP:0001959Polydipsia
HP:0500138Hyperserinemia
HP:0012278Abnormal circulating serine concentration
HP:0001956Truncal obesity
HP:0001513Obesity
HP:0004324Increased body weight
HP:0500139Hypoprolinemia
HP:0500136Hypothreoninemia
HP:0001955Unexplained fevers
HP:0500134Hypertryptophanemia
HP:0500135Hypotryptophanemia
HP:0004365Abnormal circulating tryptophan concentration
HP:0500132Hypovalinemia
HP:0500133Hypotyrosinemia
HP:0001953Diabetic ketoacidosis
HP:0001950Respiratory alkalosis
HP:0001951Episodic ammonia intoxication
HP:0011363Abnormality of hair growth rate
HP:0011364White hair
HP:0011365Patchy hypopigmentation of hair
HP:0500149Hyperglutamatemia
HP:0011367Yellow nails
HP:0100643Abnormality of nail color
HP:0500147Hypoglutaminemia
HP:0011369Mongolian blue spot
HP:0500145Hypohistidinemia
HP:0500143Hypoleucinemia
HP:0500144Hypoisoleucinemia
HP:0500141Hypophenylalaninemia
HP:0500142Hypolysinemia
HP:0011360Acquired abnormal hair pattern
HP:0500140Decreased circulating hydroxyproline concentration
http://purl.obolibrary.org/obo/UBERON_0008459prezygapophysis of cervical vertebra
http://purl.obolibrary.org/obo/UBERON_0008456prezygapophysis of lumbar vertebra
http://purl.obolibrary.org/obo/UBERON_0008457prezygapophysis of sacral vertebra
HP:0011374Incomplete partition of the cochlea type I
HP:0011373Incomplete partition of the cochlea
HP:0008554Cochlear malformation
HP:0011375Cochlear aplasia
HP:0011377Aplasia of the vestibule
HP:0011378Hypoplasia of the vestibule of the inner ear
HP:0011379Dilated vestibule of the inner ear
HP:0500159Increased level of circulating aspartic acid
HP:0500158Abnormal circulating aspartic acid concentration
HP:0500156Hyperasparaginemia
HP:0500157Hypoasparaginemia
HP:0500154Hypoalaninemia
HP:0500155Abnormal circulating asparagine concentration
HP:0500152Hypocystinemia
HP:0500153Hyperargininemia
HP:0011371Recurrent viral skin infections
HP:0500150Hypoglutamatemia
HP:0011372Aplasia of the inner ear
HP:0500151Hypercystinemia
http://purl.obolibrary.org/obo/UBERON_0008461postzygapophysis of lumbar vertebra
http://purl.obolibrary.org/obo/UBERON_0008462postzygapophysis of cervical vertebra
http://purl.obolibrary.org/obo/UBERON_0008460prezygapophysis of thoracic vertebra
http://purl.obolibrary.org/obo/UBERON_0008463postzygapophysis of thoracic vertebra
HP:0011385Absent internal auditory canal
HP:0011386Narrow internal auditory canal
HP:0011384Abnormality of the internal auditory canal
HP:0011387Enlarged vestibular aqueduct
HP:0011388Enlarged cochlear aqueduct
HP:0500167Hypergastrinemia
HP:0500166Abnormal circulating gastrin level
HP:0500163Hypoornithinemia
HP:0012025Abnormal circulating ornithine concentration
HP:0011381Aplasia of the semicircular canal
HP:0500161Increased level of carnosine in blood
HP:0011382Hypoplasia of the semicircular canal
HP:0011383Enlarged semicircular canal
HP:0500162Decreased level of carnosine in blood
HP:0500160Abnormal circulating carnosine concentration
HP:0500170Abnormal concentration of acylcarnitine in the urine
HP:0011395Aplasia/Hypoplasia of the cochlea
HP:0008774Aplasia/Hypoplasia of the inner ear
HP:0011396Abnormality of the cochlear nerve
HP:0011398Central hypotonia
HP:0011399Tibialis atrophy
HP:0008944Distal lower limb amyotrophy
HP:0011393Aplasia of the vestibular nerve.
HP:0500173Reflex asystolic syncope
HP:0001279Syncope
HP:0011394Hypoplasia of the vestibular nerve
HP:0011392Abnormality of the vestibular nerve
HP:0009591Abnormality of the vestibulocochlear nerve
HP:0011391Morphological abnormality of the nerves of the inner ear
HP:0500181Hypertaurinemia
HP:0500182Hypotaurinemia
HP:0500180Abnormal circulating amino sulfonic acid concentration
HP:0011321Left unilambdoid synostosis
HP:0011322Right unilambdoid synostosis
HP:0011320Unilambdoid synostosis
HP:0004443Lambdoidal craniosynostosis
HP:0011323Cleft of chin
HP:0011325Pansynostosis
HP:0011324Multiple suture craniosynostosis
http://purl.obolibrary.org/obo/GO_0099550trans-synaptic signaling, modulating synaptic transmission
HP:0500193Increased CSF isoleucine concentration
HP:0500190Decreased CSF leucine concentration
HP:0500191Increased CSF leucine concentration
HP:0500189Abnormal CSF leucine concentration
http://purl.obolibrary.org/obo/GO_0099547regulation of translation at synapse, modulating synaptic transmission
http://purl.obolibrary.org/obo/GO_0050804modulation of chemical synaptic transmission
http://purl.obolibrary.org/obo/GO_0099177regulation of trans-synaptic signaling
HP:0011326Anterior plagiocephaly
HP:0011327Posterior plagiocephaly
HP:0001357Plagiocephaly
HP:0011330Metopic synostosis
HP:0011331Hemifacial atrophy
HP:0011332Hemifacial hypoplasia
http://purl.obolibrary.org/obo/UBERON_0008429cervical vertebral foramen
HP:0011333Asymmetric crying face
HP:0011334Facial shape deformation
HP:0011335Frontal hirsutism
HP:0011336Bitemporal forceps marks
HP:0500198Decreased CSF glutamine concentration
HP:0500197Increased CSF glutamine concentration
HP:0500196Abnormal CSF glutamine concentration
HP:0500194Decreased CSF isoleucine concentration
HP:0500192Abnormal CSF isoleucine concentration
HP:0011337Abnormality of mouth size
http://purl.obolibrary.org/obo/UBERON_0008425mammary ridge
http://purl.obolibrary.org/obo/GO_1904480positive regulation of intestinal absorption
http://purl.obolibrary.org/obo/UBERON_0008420buccal epithelium
HP:0011340Incomplete cleft of the upper lip
HP:0000204Cleft upper lip
HP:0011341Long upper lip
HP:0011342Mild global developmental delay
HP:0011343Moderate global developmental delay
HP:0011344Severe global developmental delay
HP:0001263Global developmental delay
HP:0011345Moderate expressive language delay
HP:0011346Mild expressive language delay
HP:0002474Expressive language delay
HP:0011347Abnormality of ocular abduction
http://purl.obolibrary.org/obo/GO_1904479negative regulation of intestinal absorption
http://purl.obolibrary.org/obo/GO_1904478regulation of intestinal absorption
http://purl.obolibrary.org/obo/GO_0060457negative regulation of digestive system process
http://purl.obolibrary.org/obo/UBERON_0008436thoracic vertebral arch
HP:0011349Abducens palsy
HP:0011348Abnormality of the sixth cranial nerve
http://purl.obolibrary.org/obo/UBERON_0008434cervical vertebral arch
http://purl.obolibrary.org/obo/UBERON_0008435vertebral arch of sacral segment
http://purl.obolibrary.org/obo/UBERON_0008432thoracic vertebral foramen
http://purl.obolibrary.org/obo/UBERON_0008433lumbar vertebral arch
http://purl.obolibrary.org/obo/UBERON_0008430lumbar vertebral foramen
http://purl.obolibrary.org/obo/UBERON_0008431sacral foramen
HP:0011351Moderate receptive language delay
HP:0011352Severe receptive language delay
HP:0011353Arterial intimal fibrosis
HP:0011358Generalized hypopigmentation of hair
HP:0011350Mild receptive language delay
HP:0011359Dry hair
http://purl.obolibrary.org/obo/PR_P00450ceruloplasmin (human)
http://purl.obolibrary.org/obo/GO_0002562somatic diversification of immune receptors via germline recombination within a single locus
http://purl.obolibrary.org/obo/GO_0002200somatic diversification of immune receptors
http://purl.obolibrary.org/obo/GO_0016444somatic cell DNA recombination
http://purl.obolibrary.org/obo/GO_0006310DNA recombination
http://purl.obolibrary.org/obo/GO_0002544chronic inflammatory response
http://purl.obolibrary.org/obo/GO_0002548monocyte chemotaxis
http://purl.obolibrary.org/obo/GO_0030595leukocyte chemotaxis
http://purl.obolibrary.org/obo/GO_0060326cell chemotaxis
http://purl.obolibrary.org/obo/GO_0006935chemotaxis
http://purl.obolibrary.org/obo/GO_0042330taxis
http://www.informatics.jax.org/marker/MGI:96677Kit (mouse)
http://purl.obolibrary.org/obo/GO_0002574thrombocyte differentiation
http://www.informatics.jax.org/marker/MGI:96683Kdr (mouse)
http://purl.obolibrary.org/obo/CHEBI_137682methylhistidine
http://purl.obolibrary.org/obo/GO_2000379positive regulation of reactive oxygen species metabolic process
http://purl.obolibrary.org/obo/GO_2000378negative regulation of reactive oxygen species metabolic process
http://purl.obolibrary.org/obo/GO_2000377regulation of reactive oxygen species metabolic process
http://purl.obolibrary.org/obo/PR_000018773lymphocyte antigen 6A-2/6E-1, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000018775lymphocyte antigen 6C2, signal peptide removed form
http://purl.obolibrary.org/obo/PR_P00439phenylalanine-4-hydroxylase (human)
http://purl.obolibrary.org/obo/GO_0002520immune system development
http://purl.obolibrary.org/obo/GO_0002504http://purl.obolibrary.org/obo/GO_0002504
http://purl.obolibrary.org/obo/PR_000018704complement component C1q receptor, signal peptide removed form
http://purl.obolibrary.org/obo/GO_0002507tolerance induction
http://purl.obolibrary.org/obo/GO_0002534cytokine production involved in inflammatory response
http://purl.obolibrary.org/obo/GO_0002539prostaglandin production involved in inflammatory response
http://purl.obolibrary.org/obo/GO_0002538arachidonic acid metabolite production involved in inflammatory response
http://purl.obolibrary.org/obo/GO_0002536respiratory burst involved in inflammatory response
http://purl.obolibrary.org/obo/GO_0002532production of molecular mediator involved in inflammatory response
http://purl.obolibrary.org/obo/GO_0002679respiratory burst involved in defense response
http://purl.obolibrary.org/obo/GO_0045730respiratory burst
http://purl.obolibrary.org/obo/GO_0002523leukocyte migration involved in inflammatory response
http://purl.obolibrary.org/obo/GO_0002522leukocyte migration involved in immune response
http://purl.obolibrary.org/obo/GO_0002526acute inflammatory response
http://purl.obolibrary.org/obo/GO_0006954inflammatory response
HP:0011401Delayed peripheral myelination
HP:0012448Delayed myelination
HP:0011402Demyelinating sensory neuropathy
HP:0011404Lethal short-trunk short stature
HP:0011405Childhood onset short-limb short stature
HP:0011406Infancy onset short-trunk short stature
HP:0003521Disproportionate short-trunk short stature
HP:0011407Proportionate tall stature
HP:0000098Tall stature
HP:0011408Moderate intrauterine growth retardation
HP:0001511Intrauterine growth retardation
HP:0011411Forceps delivery
HP:0011412Ventouse delivery
HP:0011413Shoulder dystocia
http://purl.obolibrary.org/obo/PATO_0000125mass
http://purl.obolibrary.org/obo/CHEBI_43474hydrogenphosphate
http://purl.obolibrary.org/obo/CHEBI_35780phosphate ion
http://purl.obolibrary.org/obo/CHEBI_33461phosphorus oxoanion
http://purl.obolibrary.org/obo/CHEBI_33459pnictogen oxoanion
HP:0011414Hydropic placenta
HP:0006267Large placenta
HP:0011415Calcified placenta
HP:0011416Placental infarction
HP:0011417Long umbilical cord
HP:0011419Placental abruption
HP:0500208Increased CSF lysine concentration
HP:0500207Decreased CSF lysine concentration
HP:0500206Abnormal CSF lysine concentration
HP:0011421Death in adolescence
HP:0011420Age of death
HP:0500204Decreased CSF arginine concentration
HP:0011423Hyperchloremia
HP:0500203Increased CSF arginine concentration
HP:0500202Abnormal CSF arginine concentration
HP:0011424Increased serum zinc
HP:0500200Increased CSF glutamate concentration
HP:0500201Decreased CSF glutamate concentration
HP:0500199Abnormal CSF glutamate concentration
HP:0500195Abnormal CSF glutamine family amino acid concentration
HP:0011426Fetal choroid plexus cysts
HP:0011427Enlarged fetal cisterna magna
HP:0011428Short fetal femur length
HP:0011429Short fetal humerus length
HP:0011430Hypoplasia of fetal nasal bone
HP:0500217Increased CSF aspartate concentration
HP:0011431Fetal fifth finger clinodactyly
HP:0011432High maternal serum alpha-fetoprotein
HP:0500216Abnormal CSF aspartate concentration
HP:0011433High maternal serum chorionic gonadotropin
HP:0500213Decreased CSF threonine concentration
HP:0011434Low maternal serum chorionic gonadotropin
HP:0011435Low maternal serum PAPP-A
HP:0500212Increased CSF threonine concentration
HP:0500211Abnormal CSF threonine concentration
HP:0500210Increased CSF methionine concentration
HP:0500209Abnormal CSF methionine concentration
HP:0500205Abnormal CSF aspartate family amino acid concentration
HP:0011437Maternal autoimmune disease
HP:0011438Maternal teratogenic exposure
HP:0031437Pregnancy exposure
HP:0011439Anesthetic-induced rhabdomylosis
HP:0500228Decreased CSF serine concentration
http://purl.obolibrary.org/obo/GO_0051447negative regulation of meiotic cell cycle
HP:0500227Increased CSF serine concentration
HP:0500226Abnormal CSF serine concentration
http://purl.obolibrary.org/obo/GO_0051446positive regulation of meiotic cell cycle
http://purl.obolibrary.org/obo/GO_0045787positive regulation of cell cycle
HP:0500224Decreased CSF phenylalanine concentration
HP:0500222Increased CSF tryptophan concentration
HP:0500218Abnormal CSF tryptophan concentration
HP:0500223Increased CSF phenylalanine concentration
HP:0500215Abnormal CSF phenylalanine concentration
HP:0500220Increased CSF tyrosine concentration
http://purl.obolibrary.org/obo/GO_0051445regulation of meiotic cell cycle
HP:0500221Decreased CSF tyrosine concentration
HP:0500219Abnormal CSF tyrosine concentration
HP:0500239Increased CSF albumin concentration
HP:0002922Increased CSF protein
HP:0500237Decreased CSF histidine concentration
HP:0500238Abnormal CSF albumin concentration
HP:0500236Increased CSF histidine concentration
HP:0500235Abnormal CSF histidine concentration
HP:0500214Abnormal CSF aromatic amino acid concentration
HP:0500233Increased CSF alanine concentration
HP:0500234Decreased CSF alanine concentration
HP:0500232Abnormal CSF alanine concentration
HP:0500231Abnormal CSF pyruvate family amino acid concentration
http://purl.obolibrary.org/obo/PATO_0000165time
HP:0500230Increased CSF glycine concentration
HP:0500229Abnormal CSF glycine concentration
HP:0500225Abnormal CSF serine family amino acid concentration
HP:0500248Increased CSF alpha-aminobutyrate concentration
HP:0500246Increased CSF citrulline concentration
HP:0500247Abnormal CSF alpha-aminobutyrate concentration
HP:0500244Increased CSF ornithine concentration
HP:0500245Abnormal CSF citrulline concentration
HP:0500242Increased CSF homocarnosine concentration
HP:0500187Increased CSF valine concentration
HP:0500243Abnormal CSF ornithine concentration
HP:0500240Abnormal CSF carnosine concentration
HP:0500241Abnormal CSF homocarnosine concentration
HP:0500257Increased urine isobutyrylglycine concentration
HP:0500255Increased level of hexanoylglycine in urine
HP:0500256Abnormal urine isobutyrylglycine concentration
HP:0500253Increased level of gamma-aminobutyric acid in urine
HP:0500254Abnormal urine hexanoylglycine concentration
HP:0500252Increased urine sebacic acid concentration
HP:0500251Abnormal urine sebacic acid concentration
http://purl.obolibrary.org/obo/PATO_0000188coordination
HP:0500250Increased circulating ethanolamine concentration
HP:0500249Abnormal circulating ethanolamine concentration
HP:0011483Anterior synechiae of the anterior chamber
HP:0011484Posterior synechiae of the anterior chamber
HP:0011485Corneolenticular adhesion
HP:0011487Increased corneal thickness
HP:0011486Abnormality of corneal thickness
HP:0000485Megalocornea
HP:0500266Decreased proportion of CD8-positive, alpha-beta TEMRA T cells
HP:0500264Increased helper T cell proportion
HP:0500265Increased proportion of CD8-positive, alpha-beta TEMRA T cells
HP:0500262Atrichia
HP:0011480Unilateral microphthalmos
HP:0500260Triggered by head trauma
HP:0031135Triggered by physical trauma
HP:0500261Triggered by anesthetics
HP:0025204Triggered by
HP:0500270Increased proportion of gamma-delta T cells
http://purl.obolibrary.org/obo/UBERON_0008338plantar part of pes
http://purl.obolibrary.org/obo/UBERON_0008837palmar/plantar part of autopod
http://purl.obolibrary.org/obo/UBERON_0008331clitoral smooth muscle
HP:0011496Corneal neovascularization
HP:0011497Iris neovascularization
HP:0500273Increased proportion of immature gamma-delta T cells
HP:0011490Abnormal Descemet membrane morphology
HP:0500274Decreased proportion of immature gamma-delta T cells
HP:0500271Decreased proportion of gamma-delta T cells
HP:0500269Abnormal proportion of gamma-delta T cells
HP:0500272Abnormal proportion of immature gamma-delta T cells
http://purl.obolibrary.org/obo/UBERON_0008340nasal bridge
http://purl.obolibrary.org/obo/UBERON_0008341columella nasi
http://purl.obolibrary.org/obo/PR_000016043T-cell acute lymphocytic leukemia protein 1
http://purl.obolibrary.org/obo/UBERON_0035927sulcus of parietal lobe
http://purl.obolibrary.org/obo/UBERON_0008346duodenal epithelium
http://purl.obolibrary.org/obo/UBERON_0008344intestinal villus of ileum
http://purl.obolibrary.org/obo/UBERON_0008345ileal epithelium
http://purl.obolibrary.org/obo/UBERON_0011997coelom
http://purl.obolibrary.org/obo/UBERON_0008342intestinal villus of duodenum
http://purl.obolibrary.org/obo/UBERON_0008343intestinal villus of jejunum
http://purl.obolibrary.org/obo/UBERON_0008367breast epithelium
HP:0011440Alcohol-induced rhabdomyolysis
HP:0011444Decorticate rigidity
HP:0011445Athetoid cerebral palsy
HP:0100021Cerebral palsy
http://www.informatics.jax.org/marker/MGI:105979G6pdx (mouse)
HP:0011447Hyposegmentation of neutrophil nuclei
HP:0011448Ankle clonus
HP:0011449Knee clonus
HP:0011451Congenital microcephaly
HP:0011453Abnormality of the incus
HP:0011455Absent malleus
HP:0011454Abnormality of the malleus
HP:0011456Absent stapes
http://purl.obolibrary.org/obo/UBERON_0008307heart endothelium
HP:0011457Loss of eyelashes
http://www.informatics.jax.org/marker/MGI:96778Lgals3 (mouse)
http://purl.obolibrary.org/obo/UBERON_0011956right hepatic vein
http://purl.obolibrary.org/obo/UBERON_0011955left hepatic vein
http://purl.obolibrary.org/obo/UBERON_0035965wall of blood vessel
HP:0011459Esophageal carcinoma
HP:0100751Esophageal neoplasm
http://purl.obolibrary.org/obo/UBERON_0011953stomach glandular region
HP:0011461Fetal onset
HP:0011462Young adult onset
HP:0003581Adult onset
HP:0011463Childhood onset
HP:0011465Duodenal aganglionosis
HP:0011464Aganglionosis of the small intestine
HP:0011467Absent gallbladder
HP:0011468Facial tics
HP:0011460Embryonal onset
http://purl.obolibrary.org/obo/UBERON_0011969mesotarsal joint
http://purl.obolibrary.org/obo/UBERON_0011980crurotarsal joint
http://purl.obolibrary.org/obo/UBERON_0011968radio-carpal joint
http://purl.obolibrary.org/obo/UBERON_0011961articular capsule of hip joint
HP:0011469Nasal regurgitation
http://purl.obolibrary.org/obo/UBERON_0011960articular capsule of glenohumeral joint
http://purl.obolibrary.org/obo/UBERON_0035956epididymal lumen
http://purl.obolibrary.org/obo/UBERON_0011963talocalcaneonavicular joint
http://purl.obolibrary.org/obo/UBERON_0011962transverse tarsal joint
http://purl.obolibrary.org/obo/UBERON_0008310nasopharyngeal gland
http://purl.obolibrary.org/obo/PR_000004089aldehyde oxidase
HP:0011473Villous atrophy
HP:0011472Abnormality of small intestinal villus morphology
HP:0011474Childhood onset sensorineural hearing impairment
HP:0011475Persistent stapedial artery
HP:0011476Profound sensorineural hearing impairment
HP:0012715Profound hearing impairment
HP:0011477Upbeat nystagmus
HP:0010544Vertical nystagmus
HP:0011478True anophthalmia
HP:0000528Anophthalmia
http://purl.obolibrary.org/obo/GO_0051494negative regulation of cytoskeleton organization
HP:0011470Nasogastric tube feeding in infancy
HP:0011471Gastrostomy tube feeding in infancy
http://purl.obolibrary.org/obo/GO_0051495positive regulation of cytoskeleton organization
http://purl.obolibrary.org/obo/GO_0051493regulation of cytoskeleton organization
http://purl.obolibrary.org/obo/UBERON_0011979epiphysis of distal phalanx of manus
http://purl.obolibrary.org/obo/UBERON_0011978epiphysis of middle phalanx of manus
http://purl.obolibrary.org/obo/UBERON_0011977epiphysis of proximal phalanx of manus
http://purl.obolibrary.org/obo/UBERON_0004387epiphysis of phalanx of manus
http://purl.obolibrary.org/obo/UBERON_0011972medial ligament of ankle joint
http://purl.obolibrary.org/obo/UBERON_0011971calcaneofibular ligament
http://purl.obolibrary.org/obo/UBERON_0008324erectile tissue
http://purl.obolibrary.org/obo/UBERON_0011970talofibular ligament
http://purl.obolibrary.org/obo/UBERON_0008322deep artery of clitoris
http://purl.obolibrary.org/obo/UBERON_0011976epiphysis of distal phalanx of pes
http://purl.obolibrary.org/obo/UBERON_0011975epiphysis of middle phalanx of pes
http://purl.obolibrary.org/obo/UBERON_0008320common penile artery
http://purl.obolibrary.org/obo/UBERON_0036269penis blood vessel
http://purl.obolibrary.org/obo/UBERON_0011974epiphysis of proximal phalanx of pes
http://purl.obolibrary.org/obo/UBERON_0008321deep artery of penis
http://purl.obolibrary.org/obo/GO_0000262mitochondrial chromosome
http://purl.obolibrary.org/obo/PR_P12319high affinity immunoglobulin epsilon receptor subunit alpha (human)
http://purl.obolibrary.org/obo/PR_000007431high affinity immunoglobulin epsilon receptor subunit alpha
http://purl.obolibrary.org/obo/UBERON_0011918line of Schwalbe
http://purl.obolibrary.org/obo/GO_2000216positive regulation of proline metabolic process
http://purl.obolibrary.org/obo/GO_2000215negative regulation of proline metabolic process
http://purl.obolibrary.org/obo/GO_2000214regulation of proline metabolic process
http://purl.obolibrary.org/obo/PR_000028409PR:000028409 located_in GO:0005886
http://purl.obolibrary.org/obo/PR_P08514integrin alpha-IIb (human)
http://purl.obolibrary.org/obo/PR_000020328integrin alpha-IIb, signal peptide removed form
http://purl.obolibrary.org/obo/UBERON_0011919yolk sac blood island
http://purl.obolibrary.org/obo/UBERON_0011922cochlear basement membrane
http://purl.obolibrary.org/obo/UBERON_0011927preganglionic sympathetic fiber
http://purl.obolibrary.org/obo/UBERON_0011921connecting stalk blood islands
http://purl.obolibrary.org/obo/UBERON_0010303extraembryonic epithelium
http://purl.obolibrary.org/obo/PR_000028418CD4 molecule, signal peptide removed form (human)
http://purl.obolibrary.org/obo/PR_P01730T-cell surface glycoprotein CD4 (human)
http://purl.obolibrary.org/obo/PR_000018304CD4 molecule, signal peptide removed form
http://purl.obolibrary.org/obo/UBERON_0011932pilosebaceous unit
http://purl.obolibrary.org/obo/UBERON_0011931nasal hair
http://purl.obolibrary.org/obo/UBERON_0010171strand of hair of face
http://purl.obolibrary.org/obo/UBERON_0011930preganglionic parasympathetic fiber
http://purl.obolibrary.org/obo/UBERON_0011925preganglionic autonomic fiber
http://purl.obolibrary.org/obo/UBERON_0003041trigeminal nerve fibers
http://purl.obolibrary.org/obo/UBERON_0006134nerve fiber
http://purl.obolibrary.org/obo/CHEBI_422(S)-lactic acid
http://purl.obolibrary.org/obo/CHEBI_17375(2S)-2-hydroxy monocarboxylic acid
http://purl.obolibrary.org/obo/CHEBI_783202-hydroxypropanoic acid
http://purl.obolibrary.org/obo/PR_Q8R059UDP-glucose 4-epimerase (mouse)
http://purl.obolibrary.org/obo/CHEBI_16235guanine
http://purl.obolibrary.org/obo/CHEBI_207022-aminopurines
http://purl.obolibrary.org/obo/CHEBI_26386purine nucleobase
http://purl.obolibrary.org/obo/CHEBI_18282nucleobase
http://purl.obolibrary.org/obo/CHEBI_25810oxopurine
http://purl.obolibrary.org/obo/GO_2000268positive regulation of blood coagulation, intrinsic pathway
http://purl.obolibrary.org/obo/GO_2000267negative regulation of blood coagulation, intrinsic pathway
http://purl.obolibrary.org/obo/GO_2000266regulation of blood coagulation, intrinsic pathway
http://purl.obolibrary.org/obo/GO_2000265positive regulation of blood coagulation, extrinsic pathway
http://purl.obolibrary.org/obo/GO_2000264negative regulation of blood coagulation, extrinsic pathway
http://purl.obolibrary.org/obo/GO_2000273positive regulation of signaling receptor activity
http://purl.obolibrary.org/obo/GO_2000272negative regulation of signaling receptor activity
http://purl.obolibrary.org/obo/CHEBI_16247phospholipid
http://purl.obolibrary.org/obo/GO_2000253positive regulation of feeding behavior
http://purl.obolibrary.org/obo/GO_2000263regulation of blood coagulation, extrinsic pathway
http://purl.obolibrary.org/obo/GO_2000262positive regulation of blood coagulation, common pathway
http://purl.obolibrary.org/obo/GO_2000259positive regulation of protein activation cascade
http://purl.obolibrary.org/obo/GO_2000261negative regulation of blood coagulation, common pathway
http://purl.obolibrary.org/obo/GO_2000258negative regulation of protein activation cascade
http://purl.obolibrary.org/obo/GO_2000260regulation of blood coagulation, common pathway
http://purl.obolibrary.org/obo/GO_2000257regulation of protein activation cascade
http://purl.obolibrary.org/obo/PR_P26952interleukin-3 receptor subunit alpha (mouse)
http://purl.obolibrary.org/obo/GO_0048240sperm capacitation
http://purl.obolibrary.org/obo/GO_0002830positive regulation of type 2 immune response
http://purl.obolibrary.org/obo/PR_Q07108early activation antigen CD69 (human)
http://purl.obolibrary.org/obo/PR_000001343CD69 molecule
http://purl.obolibrary.org/obo/GO_0051873killing by host of symbiont cells
http://purl.obolibrary.org/obo/GO_0098542defense response to other organism
http://purl.obolibrary.org/obo/GO_0006952defense response
http://purl.obolibrary.org/obo/GO_0051883killing of cells in other organism involved in symbiotic interaction
http://purl.obolibrary.org/obo/GO_0031640killing of cells of other organism
http://purl.obolibrary.org/obo/GO_0001906cell killing
http://purl.obolibrary.org/obo/GO_0002829negative regulation of type 2 immune response
http://purl.obolibrary.org/obo/GO_0002828regulation of type 2 immune response
http://purl.obolibrary.org/obo/GO_0014832urinary bladder smooth muscle contraction
http://purl.obolibrary.org/obo/GO_0051851modulation by host of symbiont process
http://purl.obolibrary.org/obo/GO_0014827intestine smooth muscle contraction
http://purl.obolibrary.org/obo/GO_0014831gastro-intestinal system smooth muscle contraction
http://purl.obolibrary.org/obo/GO_0014821phasic smooth muscle contraction
http://purl.obolibrary.org/obo/GO_0048209regulation of vesicle targeting, to, from or within Golgi
http://purl.obolibrary.org/obo/GO_0060627regulation of vesicle-mediated transport
http://purl.obolibrary.org/obo/GO_0014861regulation of skeletal muscle contraction via regulation of action potential
http://purl.obolibrary.org/obo/GO_0098900regulation of action potential
http://purl.obolibrary.org/obo/GO_0042391regulation of membrane potential
http://purl.obolibrary.org/obo/GO_0014819regulation of skeletal muscle contraction
http://purl.obolibrary.org/obo/GO_0006942regulation of striated muscle contraction
http://purl.obolibrary.org/obo/GO_0006937regulation of muscle contraction
http://purl.obolibrary.org/obo/GO_0090257regulation of muscle system process
http://purl.obolibrary.org/obo/GO_0014848urinary tract smooth muscle contraction
http://purl.obolibrary.org/obo/GO_0002887negative regulation of myeloid leukocyte mediated immunity
http://purl.obolibrary.org/obo/GO_0000228nuclear chromosome
http://purl.obolibrary.org/obo/GO_0000229cytoplasmic chromosome
http://purl.obolibrary.org/obo/GO_0005694chromosome
http://purl.obolibrary.org/obo/GO_0002888positive regulation of myeloid leukocyte mediated immunity
http://purl.obolibrary.org/obo/GO_0002886regulation of myeloid leukocyte mediated immunity
http://purl.obolibrary.org/obo/GO_0051818disruption of cells of other organism involved in symbiotic interaction
http://purl.obolibrary.org/obo/GO_0051817modulation of process of other organism involved in symbiotic interaction
HP:0011520Deuteranomaly
HP:0011521Deuteranopia
HP:0011522Protanopia
HP:0000642Red-green dyschromatopsia
HP:0011523Iris cyst
http://purl.obolibrary.org/obo/PATO_0000261maturity
HP:0011524Iris melanoma
HP:0011525Iris nevus
HP:0011527Lentiglobus
HP:0011528Solitary congenital hypertrophy of retinal pigment epithelium
HP:0011529Multiple bilateral congenital hypertrophy of retinal pigment epithelium
http://purl.obolibrary.org/obo/UBERON_0035882sphenomaxillary suture
http://purl.obolibrary.org/obo/UBERON_0035881ethmoidomaxillary suture
HP:0011530Retinal hole
HP:0011532Subretinal exudate
HP:0011533Snowflake vitreoretinal degeneration
http://purl.obolibrary.org/obo/GO_0048193Golgi vesicle transport
http://purl.obolibrary.org/obo/GO_0016192vesicle-mediated transport
HP:0011536Right atrial isomerism
HP:0031855Right isomerism
HP:0011537Left atrial isomerism
HP:0031854Left Isomerism
HP:0031853Isomerism
HP:0011538Atrial situs inversus
http://purl.obolibrary.org/obo/GO_0099738cell cortex region
http://purl.obolibrary.org/obo/GO_0005938cell cortex
http://purl.obolibrary.org/obo/UBERON_0035884maxillary-premaxillary suture
http://purl.obolibrary.org/obo/UBERON_2002260premaxillary-maxillary joint
http://purl.obolibrary.org/obo/UBERON_2001950inter-premaxillary joint
HP:0011539Atrial situs ambiguous
HP:0011535Abnormal atrial arrangement
http://purl.obolibrary.org/obo/UBERON_0035883lacrimomaxillary suture
HP:0011542Criss-cross atrioventricular valves with superior-inferior ventricles
HP:0011541Criss-cross atrioventricular valves
HP:0011543Superior-inferior ventricles without criss-cross atrioventricular valves
HP:0011544L-looping of the right ventricle
http://purl.obolibrary.org/obo/GO_1904676negative regulation of somatic stem cell division
http://purl.obolibrary.org/obo/GO_1904677positive regulation of somatic stem cell division
http://purl.obolibrary.org/obo/GO_1904675regulation of somatic stem cell division
http://purl.obolibrary.org/obo/PATO_0000279male fertility
http://purl.obolibrary.org/obo/GO_1902018negative regulation of cilium assembly
http://purl.obolibrary.org/obo/PATO_0000277female fertility
http://purl.obolibrary.org/obo/GO_1902017regulation of cilium assembly
http://purl.obolibrary.org/obo/PATO_0000274fertility
http://purl.obolibrary.org/obo/PATO_0001434reproductive quality
http://purl.obolibrary.org/obo/UBERON_0035879frontomaxillary suture
HP:0011548Absent right sided atrioventricular connection
HP:0011549Univentricular heart with absent left sided atrioventricular connection
http://purl.obolibrary.org/obo/GO_0120054intestinal motility
HP:0011550Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection
HP:0011551Right sided atrium to left ventricle and absent left sided atrioventricular connection
HP:0011547Absent left sided atrioventricular connection
http://purl.obolibrary.org/obo/GO_0120034positive regulation of plasma membrane bounded cell projection assembly
http://purl.obolibrary.org/obo/GO_0031346positive regulation of cell projection organization
HP:0011552Ambiguous atrioventricular connection
HP:0011553Discordant atrioventricular connection
HP:0011555Double inlet left ventricle
HP:0011556Double inlet right ventricle
HP:0011558Double inlet to single ventricle with common atrioventricular orifice
HP:0011559Double inlet to single ventricle with two atrioventricular valves
HP:0011557Double inlet to single ventricle of indeterminate morphology
HP:0011554Double inlet atrioventricular connection
http://purl.obolibrary.org/obo/PATO_0000297arrested
http://purl.obolibrary.org/obo/GO_0061116ductus venosus closure
http://purl.obolibrary.org/obo/UBERON_0008256left clavicle
http://purl.obolibrary.org/obo/UBERON_0008255right clavicle
http://purl.obolibrary.org/obo/UBERON_0008266periodontal ligament
HP:0011500Polycoria
HP:0011501Anterior lenticonus
http://purl.obolibrary.org/obo/GO_0051784negative regulation of nuclear division
http://purl.obolibrary.org/obo/GO_0051785positive regulation of nuclear division
http://purl.obolibrary.org/obo/GO_0051782negative regulation of cell division
http://purl.obolibrary.org/obo/GO_0051781positive regulation of cell division
http://purl.obolibrary.org/obo/CHEBI_545959homovanillic acid
HP:0011502Posterior lenticonus
HP:0001142Lenticonus
HP:0011526Abnormality of lens shape
HP:0011503Aplasia of the fovea
HP:0011504Bull's eye maculopathy
HP:0011505Cystoid macular edema
HP:0011506Choroidal neovascularization
HP:0011507Macular flecks
HP:0011508Macular hole
HP:0011511Macular schisis
http://purl.obolibrary.org/obo/GO_0048137spermatocyte division
http://purl.obolibrary.org/obo/UBERON_0008281tooth bud
HP:0011513Retinal cavernous angioma
HP:0011515Abnormal stereopsis
HP:0011514Abnormality of binocular vision
HP:0011516Achromatopsia
HP:0011518Dichromacy
HP:0011519Anomalous trichromacy
http://purl.obolibrary.org/obo/UBERON_0035819abdominopelvic cavity
http://purl.obolibrary.org/obo/UBERON_0035815paracardial fat
http://purl.obolibrary.org/obo/UBERON_0011862pulmonary collagen fibril
http://purl.obolibrary.org/obo/UBERON_0011861aorta collagen fibril
http://purl.obolibrary.org/obo/UBERON_0011865corneal stroma collagen fibril
http://purl.obolibrary.org/obo/UBERON_0011864tendon collagen fibril
http://purl.obolibrary.org/obo/UBERON_0011863bone collagen fibril
http://purl.obolibrary.org/obo/UBERON_0011860collection of collagen fibrils
http://purl.obolibrary.org/obo/UBERON_0008229craniocervical region musculature
http://purl.obolibrary.org/obo/CHEBI_28115methylcobalamin
http://purl.obolibrary.org/obo/CHEBI_140785alkylcob(III)alamin
http://purl.obolibrary.org/obo/CHEBI_23333cob(III)alamins
http://purl.obolibrary.org/obo/CHEBI_23334cobalamins
http://purl.obolibrary.org/obo/CHEBI_23341cobamides
http://purl.obolibrary.org/obo/CHEBI_23390cobalt-corrinoid hexaamide
http://purl.obolibrary.org/obo/CHEBI_33906cobalt corrinoid
http://purl.obolibrary.org/obo/CHEBI_33890cobalt coordination entity
http://purl.obolibrary.org/obo/CHEBI_33888cobalt molecular entity
http://purl.obolibrary.org/obo/CHEBI_33767cobalt group molecular entity
http://purl.obolibrary.org/obo/CHEBI_33861transition element coordination entity
http://purl.obolibrary.org/obo/CHEBI_33240coordination entity
http://purl.obolibrary.org/obo/CHEBI_33913corrinoid
http://purl.obolibrary.org/obo/CHEBI_33909metallotetrapyrrole
http://purl.obolibrary.org/obo/GO_0097164ammonium ion metabolic process
http://purl.obolibrary.org/obo/UBERON_0011878muscle layer of esophagus
http://purl.obolibrary.org/obo/UBERON_0035804future mouth
http://purl.obolibrary.org/obo/GO_0097159organic cyclic compound binding
http://purl.obolibrary.org/obo/UBERON_0035805muscle layer of sigmoid colon
http://purl.obolibrary.org/obo/UBERON_0012489muscle layer of colon
http://purl.obolibrary.org/obo/UBERON_0011871nasomaxillary suture
http://purl.obolibrary.org/obo/UBERON_0011877margin of tongue
http://purl.obolibrary.org/obo/UBERON_0011875ligament of sternoclavicular joint
http://purl.obolibrary.org/obo/PR_000028364von Willebrand factor, signal peptide removed form (human)
http://purl.obolibrary.org/obo/PR_000021840von Willebrand factor, signal peptide removed form
http://purl.obolibrary.org/obo/GO_0097194execution phase of apoptosis
http://purl.obolibrary.org/obo/UBERON_0008231dorsal thoracic segment of trunk
http://purl.obolibrary.org/obo/CHEBI_16134ammonia
http://purl.obolibrary.org/obo/CHEBI_37176mononuclear parent hydride
http://purl.obolibrary.org/obo/CHEBI_138675gas molecular entity
http://purl.obolibrary.org/obo/CHEBI_35107azane
http://purl.obolibrary.org/obo/CHEBI_35106nitrogen hydride
http://purl.obolibrary.org/obo/CHEBI_35881pnictogen hydride
http://purl.obolibrary.org/obo/CHEBI_16135isobutyric acid
http://purl.obolibrary.org/obo/CHEBI_140601fatty acid 4:0
http://purl.obolibrary.org/obo/CHEBI_26666short-chain fatty acid
http://purl.obolibrary.org/obo/CHEBI_16137chondroitin D-glucuronate
http://purl.obolibrary.org/obo/CHEBI_37395mucopolysaccharide
http://purl.obolibrary.org/obo/GO_1902093positive regulation of flagellated sperm motility
http://purl.obolibrary.org/obo/GO_2000243positive regulation of reproductive process
http://purl.obolibrary.org/obo/GO_0097186amelogenesis
http://purl.obolibrary.org/obo/GO_0042475odontogenesis of dentin-containing tooth
http://purl.obolibrary.org/obo/GO_0042476odontogenesis
http://purl.obolibrary.org/obo/UBERON_0008242lower back muscle
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4057G6PD (human)
http://purl.obolibrary.org/obo/UBERON_0011894lumen of vagina
http://purl.obolibrary.org/obo/GO_2000294positive regulation of defecation
http://purl.obolibrary.org/obo/GO_2000293negative regulation of defecation
http://purl.obolibrary.org/obo/UBERON_0011892anterior uvea
http://purl.obolibrary.org/obo/GO_2000292regulation of defecation
http://purl.obolibrary.org/obo/UBERON_0011899epimysium
http://purl.obolibrary.org/obo/UBERON_0008243upper back muscle
http://purl.obolibrary.org/obo/UBERON_0002324muscle of back
HP:0011560Mitral atresia
HP:0011561Overriding atrioventricular valve
HP:0011562Straddling atrioventricular valve
HP:0011546Abnormal atrioventricular connection
HP:0011564Mitral valve arcade
HP:0011565Common atrium
HP:0011566Cor triatriatum dexter
HP:0011567Sinus venosus atrial septal defect
HP:0001631Atrial septal defect
HP:0011994Abnormal atrial septum morphology
http://purl.obolibrary.org/obo/CHEBI_16199urea
http://purl.obolibrary.org/obo/CHEBI_29347monocarboxylic acid amide
http://purl.obolibrary.org/obo/UBERON_0011824fibrous connective tissue
http://purl.obolibrary.org/obo/UBERON_0011827areolar gland
HP:0011568Double orifice mitral valve
HP:0011569Cleft anterior mitral valve leaflet
HP:0031480Abnormal mitral valve leaflet morphology
http://purl.obolibrary.org/obo/GO_0120033negative regulation of plasma membrane bounded cell projection assembly
http://purl.obolibrary.org/obo/GO_0031345negative regulation of cell projection organization
http://purl.obolibrary.org/obo/GO_0120032regulation of plasma membrane bounded cell projection assembly
http://purl.obolibrary.org/obo/GO_0060491regulation of cell projection assembly
http://purl.obolibrary.org/obo/GO_0120035regulation of plasma membrane bounded cell projection organization
http://purl.obolibrary.org/obo/GO_0031344regulation of cell projection organization
http://purl.obolibrary.org/obo/UBERON_0011820atrioventricular region
HP:0011571Parachute mitral valve
HP:0011572Supramitral ring
HP:0011573Hypoplastic tricuspid valve
HP:0011575Imperforate tricuspid valve
HP:0011574Imperforate atrioventricular valve
http://purl.obolibrary.org/obo/CHEBI_43799butan-1-amine
http://purl.obolibrary.org/obo/CHEBI_17062primary aliphatic amine
http://purl.obolibrary.org/obo/CHEBI_32877primary amine
http://purl.obolibrary.org/obo/CHEBI_50994primary amino compound
HP:0011576Intermediate atrioventricular canal defect
HP:0011577Partial atrioventricular canal defect
HP:0011578Transitional atrioventricular canal defect
http://purl.obolibrary.org/obo/CHEBI_28159D-asparagine
HP:0011570Congenital mitral stenosis
HP:0001718Mitral stenosis
HP:0031481Abnormal mitral valve physiology
http://purl.obolibrary.org/obo/UBERON_0035849orbital margin
HP:0011579Unbalanced atrioventricular canal defect
HP:0006695Atrioventricular canal defect
HP:0011582Abdominal ectopia cordis
HP:0011583Cervical ectopia cordis
HP:0011584Thoracocervical ectopia cordis
HP:0011585Thoracic ectopia cordis
HP:0011586Thoracoabdominal ectopia cordis
HP:0001683Ectopia cordis
HP:0011588Cervical aortic arch
HP:0011589Common origin of the right brachiocephalic artery and left common carotid artery
HP:0011580Short chordae tendineae of the mitral valve
HP:0025523Abnormal morphology of the chordae tendinae of the mitral valve
http://purl.obolibrary.org/obo/CHEBI_77119EC 1.1.1.189 (prostaglandin-E2 9-reductase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_76835EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor
http://purl.obolibrary.org/obo/CHEBI_76726EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor
http://purl.obolibrary.org/obo/CHEBI_76725EC 1.* (oxidoreductase) inhibitor
HP:0011581Double outlet left ventricle
http://purl.obolibrary.org/obo/UBERON_0011847acinus of parotid gland
http://purl.obolibrary.org/obo/UBERON_0011845duct of sebaceous gland
http://purl.obolibrary.org/obo/CHEBI_16179retinyl ester
http://purl.obolibrary.org/obo/CHEBI_33308carboxylic ester
http://purl.obolibrary.org/obo/UBERON_0035831costal diaphragm
HP:0011593Left aortic arch with retroesophageal diverticulum of Kommerell
HP:0011594Right aortic arch with retroesophageal diverticulum of Kommerell
HP:0011595Left aortic arch with retroesophageal right subclavian artery
HP:0011596Left aortic arch with right descending aorta and right ductus arteriosus
HP:0011597Right aortic arch with left descending aorta and left ductus arteriosus
HP:0011598Right aortic arch with retroesophageal left subclavian artery
HP:0012020Right aortic arch
HP:0011599Mesocardia
HP:0011590Double aortic arch
HP:0011591Left aortic arch with cervical origin of the right subclavian artery
HP:0011592Left aortic arch with isolated subclavian artery
HP:0031055Abnormal branching pattern of left aortic arch
http://purl.obolibrary.org/obo/CHEBI_16180N-acylglycine
http://purl.obolibrary.org/obo/CHEBI_140325secondary carboxamide
http://purl.obolibrary.org/obo/UBERON_0011859internal acoustic meatus
http://purl.obolibrary.org/obo/UBERON_0011857acinus of lacrimal gland
http://purl.obolibrary.org/obo/UBERON_0035826left adrenal gland medulla
http://purl.obolibrary.org/obo/UBERON_0035825left adrenal gland cortex
http://purl.obolibrary.org/obo/UBERON_0035828right adrenal gland medulla
http://purl.obolibrary.org/obo/UBERON_0035827right adrenal gland cortex
http://purl.obolibrary.org/obo/CHEBI_16189sulfate
http://purl.obolibrary.org/obo/UBERON_0011850acinus of salivary gland
http://purl.obolibrary.org/obo/UBERON_0008203pelvic cavity
http://purl.obolibrary.org/obo/UBERON_0011854acinus of areolar gland
http://purl.obolibrary.org/obo/UBERON_0011846acinus of sebaceous gland
http://purl.obolibrary.org/obo/UBERON_0011856acinus of lactiferous gland
http://purl.obolibrary.org/obo/UBERON_0035820peritoneal sac
http://purl.obolibrary.org/obo/UBERON_0008200forehead
http://purl.obolibrary.org/obo/GO_1990770small intestine smooth muscle contraction
http://purl.obolibrary.org/obo/GO_0006939smooth muscle contraction
http://purl.obolibrary.org/obo/GO_0006936muscle contraction
http://purl.obolibrary.org/obo/GO_0003012muscle system process
HP:0045063Increased PIVKA-II
HP:0045061Decreased carnitine level in liver
http://purl.obolibrary.org/obo/GO_2000108positive regulation of leukocyte apoptotic process
http://purl.obolibrary.org/obo/GO_2000107negative regulation of leukocyte apoptotic process
http://purl.obolibrary.org/obo/GO_2000106regulation of leukocyte apoptotic process
HP:0045079Distal femoral metaphyseal irregularity
HP:0045074Thin eyebrow
HP:0045048Increased HbA2 hemoglobin
HP:0045044Decreased serum complement C4b
HP:0045045Elevated plasma acylcarnitine levels
HP:0012071Abnormal circulating acetylcarnitine concentration
HP:0045046Reduced insulin like growth factor binding protein acid labile subunit level
HP:0031034Abnormal insulin like growth factor binding protein acid labile subunit level
HP:0045047HbS hemoglobin
http://purl.obolibrary.org/obo/GO_1990748cellular detoxification
http://purl.obolibrary.org/obo/GO_0098754detoxification
HP:0045041Reduced lactate dehydrogenase B level
HP:0045040Abnormal lactate dehydrogenase level
HP:0045043Decreased serum complement C4a
HP:0045042Decreased serum complement C4
HP:0045059Hyperkeratotic papule
http://purl.obolibrary.org/obo/UBERON_0011819lumen of atrioventricular canal
HP:0045055Tiger tail banding
http://purl.obolibrary.org/obo/UBERON_0011818superficial fascia
http://purl.obolibrary.org/obo/UBERON_0011817skin appendage placode
http://purl.obolibrary.org/obo/UBERON_0011814non-neurogenic ectodermal placode
HP:0045057Decreased levels of alpha-fetoprotein
HP:0045051Decreased DLCO
HP:0045053Abnormality of the lumbosacral nerve plexus
HP:0045054Brachial plexus neuropathy
HP:0045052Abnormality of the brachial nerve plexus
http://purl.obolibrary.org/obo/PR_000018964intestinal alkaline phosphatase, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000003964intestinal alkaline phosphatase
HP:0045050Increased DLCO
HP:0045049Abnormal DLCO
http://purl.obolibrary.org/obo/PR_000018966alkaline phosphatase, tissue-nonspecific isozyme, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000003968alkaline phosphatase, tissue-nonspecific isozyme
http://purl.obolibrary.org/obo/GO_2000155positive regulation of cilium-dependent cell motility
http://purl.obolibrary.org/obo/CHEBI_16113cholesterol
http://purl.obolibrary.org/obo/CHEBI_131619C27-steroid
http://purl.obolibrary.org/obo/CHEBI_17223beta-hydroxy-Delta(5)-steroid
http://purl.obolibrary.org/obo/CHEBI_353483beta-sterol
http://purl.obolibrary.org/obo/CHEBI_15889sterol
http://purl.obolibrary.org/obo/CHEBI_50401cholestanoid
HP:0045090Minor finding
http://purl.obolibrary.org/obo/PR_P26842CD27 antigen (human)
HP:0045089Distinctive finding
HP:0045088Clinical relevance
HP:0045084Limb myoclonus
HP:0045085Atrophy of masseter muscle
HP:3000005Abnormality of masseter muscle
HP:0045086Knee joint hypermobility
HP:0010500Hyperextensibility of the knee
HP:0045087Hip joint hypermobility
HP:0045080Decreased proportion of CD3-positive T cells
HP:0045082Decreased body mass index
HP:0004325Decreased body weight
HP:0045081Abnormality of body mass index
HP:0004323Abnormality of body weight
http://purl.obolibrary.org/obo/GO_0002711positive regulation of T cell mediated immunity
http://purl.obolibrary.org/obo/GO_0002710negative regulation of T cell mediated immunity
http://purl.obolibrary.org/obo/GO_0002714positive regulation of B cell mediated immunity
http://purl.obolibrary.org/obo/GO_0002824positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains
http://purl.obolibrary.org/obo/GO_0002821positive regulation of adaptive immune response
http://purl.obolibrary.org/obo/GO_0002713negative regulation of B cell mediated immunity
http://purl.obolibrary.org/obo/GO_0002823negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains
http://purl.obolibrary.org/obo/GO_0002820negative regulation of adaptive immune response
http://purl.obolibrary.org/obo/GO_0002712regulation of B cell mediated immunity
http://purl.obolibrary.org/obo/GO_0002719negative regulation of cytokine production involved in immune response
http://purl.obolibrary.org/obo/GO_0002717positive regulation of natural killer cell mediated immunity
http://purl.obolibrary.org/obo/GO_0045089positive regulation of innate immune response
http://purl.obolibrary.org/obo/GO_0002833positive regulation of response to biotic stimulus
http://purl.obolibrary.org/obo/GO_0002716negative regulation of natural killer cell mediated immunity
http://purl.obolibrary.org/obo/GO_0002715regulation of natural killer cell mediated immunity
http://purl.obolibrary.org/obo/GO_0045824negative regulation of innate immune response
http://purl.obolibrary.org/obo/GO_0045088regulation of innate immune response
http://purl.obolibrary.org/obo/GO_0031348negative regulation of defense response
http://purl.obolibrary.org/obo/GO_0002832negative regulation of response to biotic stimulus
http://purl.obolibrary.org/obo/GO_0002831regulation of response to biotic stimulus
http://purl.obolibrary.org/obo/GO_0002701negative regulation of production of molecular mediator of immune response
http://purl.obolibrary.org/obo/GO_0002708positive regulation of lymphocyte mediated immunity
http://purl.obolibrary.org/obo/GO_0002707negative regulation of lymphocyte mediated immunity
http://purl.obolibrary.org/obo/GO_0002704negative regulation of leukocyte mediated immunity
http://purl.obolibrary.org/obo/GO_0002698negative regulation of immune effector process
http://purl.obolibrary.org/obo/GO_0002705positive regulation of leukocyte mediated immunity
http://purl.obolibrary.org/obo/GO_0002709regulation of T cell mediated immunity
http://purl.obolibrary.org/obo/GO_0002706regulation of lymphocyte mediated immunity
http://purl.obolibrary.org/obo/GO_0002703regulation of leukocyte mediated immunity
http://purl.obolibrary.org/obo/GO_0002822regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains
http://purl.obolibrary.org/obo/GO_0002819regulation of adaptive immune response
http://purl.obolibrary.org/obo/GO_0048103somatic stem cell division
HP:0011708Mobitz II atrioventricular block
HP:0011709Atrioventricular dissociation
HP:0011700Automatic atrial tachycardia
HP:0011701Multifocal atrial tachycardia
HP:0011704Sick sinus syndrome
HP:0011705First degree atrioventricular block
HP:0011707Mobitz I atrioventricular block
HP:0011706Second degree atrioventricular block
HP:0011719Supracardiac total anomalous pulmonary venous connection
http://purl.obolibrary.org/obo/GO_0002720positive regulation of cytokine production involved in immune response
http://purl.obolibrary.org/obo/GO_0002702positive regulation of production of molecular mediator of immune response
http://purl.obolibrary.org/obo/GO_0002699positive regulation of immune effector process
http://purl.obolibrary.org/obo/GO_0002718regulation of cytokine production involved in immune response
http://purl.obolibrary.org/obo/GO_0002700regulation of production of molecular mediator of immune response
http://purl.obolibrary.org/obo/GO_0002697regulation of immune effector process
HP:0011711Left anterior fascicular block
HP:0011712Right bundle branch block
HP:0011714Libman-Sacks lesions
HP:0100584Endocarditis
HP:0004306Abnormal endocardium morphology
HP:0011715Trifascicular block
HP:0011716Junctional ectopic tachycardia
HP:0011717Atrioventricular reentrant tachycardia
http://purl.obolibrary.org/obo/GO_0002762negative regulation of myeloid leukocyte differentiation
http://purl.obolibrary.org/obo/GO_0045638negative regulation of myeloid cell differentiation
http://purl.obolibrary.org/obo/UBERON_2000238olfactory tract linking bulb to ipsilateral ventral telencephalon
http://purl.obolibrary.org/obo/UBERON_0002265olfactory tract
http://purl.obolibrary.org/obo/GO_0051711negative regulation of killing of cells of other organism
http://purl.obolibrary.org/obo/GO_0031342negative regulation of cell killing
http://purl.obolibrary.org/obo/GO_0043901negative regulation of multi-organism process
http://purl.obolibrary.org/obo/GO_0051712positive regulation of killing of cells of other organism
http://purl.obolibrary.org/obo/GO_0031343positive regulation of cell killing
http://purl.obolibrary.org/obo/GO_0043902positive regulation of multi-organism process
http://purl.obolibrary.org/obo/PR_P24270catalase (mouse)
http://purl.obolibrary.org/obo/GO_0051703intraspecies interaction between organisms
http://purl.obolibrary.org/obo/GO_0051702interaction with symbiont
http://purl.obolibrary.org/obo/GO_0051709regulation of killing of cells of other organism
http://purl.obolibrary.org/obo/GO_0031341regulation of cell killing
http://purl.obolibrary.org/obo/GO_0043900regulation of multi-organism process
http://purl.obolibrary.org/obo/GO_0002763positive regulation of myeloid leukocyte differentiation
http://purl.obolibrary.org/obo/GO_0002761regulation of myeloid leukocyte differentiation
http://purl.obolibrary.org/obo/GO_0045639positive regulation of myeloid cell differentiation
http://purl.obolibrary.org/obo/GO_0045637regulation of myeloid cell differentiation
http://purl.obolibrary.org/obo/PR_000018921alpha-fetoprotein, signal peptide removed form
HP:0011640Single coronary artery origin
HP:0011641Coronary artery fistula
HP:0011643Coronary sinus atrial septal defect
HP:0011644Coronary sinus diverticulum
HP:0011642Abnormal coronary sinus morphology
http://purl.obolibrary.org/obo/PATO_0000381decreased frequency
http://purl.obolibrary.org/obo/PATO_0000911decreased rate
http://purl.obolibrary.org/obo/PATO_0000380increased frequency
http://purl.obolibrary.org/obo/PATO_0000912increased rate
http://purl.obolibrary.org/obo/PATO_0000044frequency
http://purl.obolibrary.org/obo/PATO_0050000rate of occurence
http://purl.obolibrary.org/obo/PATO_0000161rate
http://purl.obolibrary.org/obo/CHEBI_28087glycogen
HP:0011645Dilatation of the sinus of Valsalva
HP:0004970Ascending tubular aorta aneurysm
http://purl.obolibrary.org/obo/GO_0061037negative regulation of cartilage development
HP:0011646Juxtaductal coarctation of the aorta
http://purl.obolibrary.org/obo/GO_0061036positive regulation of cartilage development
HP:0011647Postductal coarctation of the aorta
http://purl.obolibrary.org/obo/GO_0061035regulation of cartilage development
HP:0011648Patent ductus arteriosus after birth at term
HP:0011649Patent ductus arteriosus after premature birth
http://purl.obolibrary.org/obo/UBERON_0035776accessory ciliary ganglion
HP:0011650Bilateral ductus arteriosus
HP:0001643Patent ductus arteriosus
HP:0011651Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
HP:0011652Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis
HP:0011653Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis
HP:0011654Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis
HP:0011655Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis
HP:0008001Foveal hyperpigmentation
HP:0011509Macular hyperpigmentation
HP:0008000Decreased corneal reflex
HP:0008005Congenital corneal dystrophy
HP:0008003Jerky ocular pursuit movements
http://purl.obolibrary.org/obo/UBERON_0035767intrapulmonary bronchus
http://purl.obolibrary.org/obo/UBERON_0002185bronchus
HP:0011656Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis
HP:0008009Three rows of eyelashes
HP:0011657Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis
HP:0011658Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
HP:0001719Double outlet right ventricle
HP:0011659Tetralogy of Fallot with absent pulmonary valve
HP:0008007Primary congenital glaucoma
http://purl.obolibrary.org/obo/UBERON_0035763cavity of cardiac chamber
http://purl.obolibrary.org/obo/UBERON_0008188tendon of biceps brachii
http://purl.obolibrary.org/obo/UBERON_0035764pulmonary lymph node
http://purl.obolibrary.org/obo/CHEBI_16094thiosulfate(2-)
http://purl.obolibrary.org/obo/CHEBI_79388divalent inorganic anion
HP:0011661Anomalous origin of left pulmonary artery from ascending aorta
HP:0011663Right ventricular cardiomyopathy
HP:0011664Left ventricular noncompaction cardiomyopathy
HP:0012817Noncompaction cardiomyopathy
HP:0011665Takotsubo cardiomyopathy
HP:0011666Absent right superior vena cava
HP:0008020Cone dystrophy
HP:0000548Cone/cone-rod dystrophy
http://purl.obolibrary.org/obo/PATO_0000396severe intensity
http://purl.obolibrary.org/obo/PATO_0000394mild intensity
http://purl.obolibrary.org/obo/PATO_0000395moderate intensity
http://purl.obolibrary.org/obo/PATO_0000049intensity
http://purl.obolibrary.org/obo/UBERON_0008198nail plate
HP:0008011Peripheral opacification of the cornea
http://purl.obolibrary.org/obo/GO_0099643signal release from synapse
HP:0008014Central fundal arteriolar microaneurysms
http://purl.obolibrary.org/obo/UBERON_0008192tendon of triceps brachii
http://purl.obolibrary.org/obo/CHEBI_65023anti-asthmatic agent
HP:0011667Bilateral superior vena cava with bridging vein
HP:0011668Bilateral superior vena cava with no bridging vein
HP:0008019Superior lens subluxation
HP:0001132Lens subluxation
HP:0001083Ectopia lentis
HP:0011669Left superior vena cava draining directly to the left atrium
http://purl.obolibrary.org/obo/UBERON_0008199chin
HP:0011670Left superior vena cava draining to coronary sinus
HP:0011671Interrupted inferior vena cava with azygous continuation
HP:0025576Abnormal inferior vena cava morphology
HP:0011672Cardiac myxoma
HP:0011673Cardiac hemangioma
HP:0011674Cardiac teratoma
HP:0011676Tetralogy of Fallot with absent subarterial conus
HP:0011677Tetralogy of Fallot with atrioventricular canal defect
http://purl.obolibrary.org/obo/PATO_0000389acute
http://purl.obolibrary.org/obo/PATO_0000387soft
HP:0008031Posterior Y-sutural cataract
HP:0008030Retinal arteritis
HP:0025188Retinal vasculitis
HP:0012089Arteritis
http://purl.obolibrary.org/obo/PATO_0000386hard
http://purl.obolibrary.org/obo/PATO_0000048hardness
http://purl.obolibrary.org/obo/PATO_0001546quality of a solid
HP:0008028Cystoid macular degeneration
HP:0008026Horizontal opticokinetic nystagmus
HP:0011678Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries
HP:0012516Tetralogy of Fallot with pulmonary atresia
HP:0011679Tetralogy of Fallot with pulmonary stenosis
HP:0001636Tetralogy of Fallot
HP:0001710Conotruncal defect
HP:0011563Abnormal ventriculoarterial connection
HP:0011545Abnormal connection of the cardiac segments
HP:0002623Overriding aorta
HP:0001642Pulmonic stenosis
HP:0031654Abnormal pulmonary valve physiology
HP:0001667Right ventricular hypertrophy
http://purl.obolibrary.org/obo/GO_1902113nucleotide phosphorylation involved in DNA repair
http://purl.obolibrary.org/obo/GO_1902117positive regulation of organelle assembly
http://purl.obolibrary.org/obo/GO_1902116negative regulation of organelle assembly
http://purl.obolibrary.org/obo/GO_1902115regulation of organelle assembly
HP:0011609Type III truncus arteriosus
HP:0011601Rightward direction of ventricular apex
HP:0011602Midline direction of ventricular apex
HP:0011600Abnormal direction of ventricular apex
HP:0004307Abnormal anatomic location of the heart
HP:0011604Aortopulmonary window
HP:0011605Congenitally corrected transposition of the great arteries with ventricular septal defect
HP:0011540Congenitally corrected transposition of the great arteries
HP:0011534Abnormal spatial orientation of the cardiac segments
HP:0011608Type II truncus arteriosus
HP:0011610Type IV truncus arteriosus
HP:0001660Truncus arteriosus
http://purl.obolibrary.org/obo/GO_0051674localization of cell
http://purl.obolibrary.org/obo/GO_1902106negative regulation of leukocyte differentiation
http://purl.obolibrary.org/obo/GO_1902107positive regulation of leukocyte differentiation
http://purl.obolibrary.org/obo/GO_1902105regulation of leukocyte differentiation
HP:0011612Interrupted aortic arch type A
HP:0011613Interrupted aortic arch type B
HP:0011614Interrupted aortic arch type C
HP:0011611Interrupted aortic arch
HP:0011616Pulmonary situs inversus
HP:0011618Pulmonary situs ambiguus with bilateral morphologic right lungs
HP:0011619Pulmonary situs ambiguus with bilateral morphologic left lungs
HP:0011617Pulmonary situs ambiguus
HP:0011615Abnormal pulmonary situs morphology
HP:0500008Cornea verticillata
HP:0500009Dysplastic gangliocytoma of the cerebellum
HP:0500006Urethritis
HP:0500007Iris flocculi
HP:0011621Gerbode ventricular septal defect
HP:0011622Inlet ventricular septal defect
HP:0011624Apical muscular ventricular septal defect
http://purl.obolibrary.org/obo/GO_0048018receptor ligand activity
http://purl.obolibrary.org/obo/GO_0030546signaling receptor activator activity
http://purl.obolibrary.org/obo/GO_0030545receptor regulator activity
http://purl.obolibrary.org/obo/GO_0098772molecular function regulator
HP:0011625Multiple muscular ventricular septal defects
HP:0011623Muscular ventricular septal defect
HP:0011626Scimitar anomaly
HP:0011627Aorto-ventricular tunnel
HP:0011629Total absence of the pericardium
http://purl.obolibrary.org/obo/UBERON_0035783ganglion of ciliary nerve
HP:0500019Abnormal resting energy expenditure from metabolic cart test
HP:0011630Complete diaphragmatic absence of pericardium
HP:0500017Abnormal cardiac catheterization
HP:0011631Complete right sided absence of pericardium
HP:0500018Abnormal cardiac exercise stress test
HP:0011632Partial right sided absence of pericardium
HP:0011633Complete left sided absence of pericardium
HP:0500016Abnormal cardiac MRI
HP:0500013Lack of gonadotropin-releasing hormone pulsatility
HP:0500011Moon facies
http://purl.obolibrary.org/obo/GO_0051650establishment of vesicle localization
http://purl.obolibrary.org/obo/GO_0051656establishment of organelle localization
http://purl.obolibrary.org/obo/GO_0051648vesicle localization
http://purl.obolibrary.org/obo/GO_0051640organelle localization
HP:0011634Partial left sided absence of pericardium
HP:0011635Partial diaphragmatic absence of pericardium
HP:0011628Congenital defect of the pericardium
HP:0011638Anomalous origin of left coronary artery from the pulmonary artery
HP:0011639Anomalous origin of right coronary artery from the pulmonary artery
HP:0011637Anomalous origin of coronary artery from the pulmonary artery
HP:0011636Abnormal coronary artery origin
HP:0033011Platystencephaly
HP:0033010Increased fecal coproporphyrin 3
HP:0033017Transient decreased circulating IgD
HP:0500028Cotton wool plaques
HP:0100256Senile plaques
HP:0033016Chronic decreased circulating IgD
HP:0033015Increased salivary cortisol level
HP:0500026Hypoplasia of the musculature of the pelvis
HP:0033014Decreased salivary cortisol level
HP:0033013Abnormal salivary cortisol level
HP:0033012Abnormal salivary metabolite concentration
HP:0500027Aplastic colon
HP:0008082Medial deviation of the foot
HP:0500024Aplasia of the musculature of the pelvis
HP:0001471Aplasia/Hypoplasia of the musculature of the pelvis
HP:0001469Abnormal morphology of the pelvis musculature
HP:0008081Pes valgus
HP:0500022Abnormal serum dehydroepiandrosterone level
HP:0008080Hallux varus
HP:0500023Shoulder muscle aplasia
HP:0003634Amyoplasia
HP:0500021Reduced brain gamma-aminobutyric acid level by MRS
HP:00080832nd-5th toe middle phalangeal hypoplasia
HP:0010357Abnormality of the middle phalanx of the 2nd toe
HP:0010324Abnormality of phalanx of the 2nd toe
HP:0010369Abnormality of the middle phalanx of the 3rd toe
HP:0010330Abnormality of the phalanges of the 3rd toe
HP:0010393Abnormality of the middle phalanx of the 5th toe
HP:0010342Abnormality of the phalanges of the 5th toe
HP:0003795Short middle phalanx of toe
HP:0010381Abnormality of the middle phalanx of the 4th toe
HP:0010336Abnormality of the phalanges of the 4th toe
HP:0010183Abnormality of the middle phalanges of the toes
HP:0008079Absent fifth metatarsal
HP:0008078Thin metatarsal cortices
HP:0008076Osteoporotic tarsals
HP:0033018Chronic absent circulating IgD
http://purl.obolibrary.org/obo/UBERON_0011745pulmonary valve leaflets
http://purl.obolibrary.org/obo/UBERON_0011742aortic valve leaflet
HP:0033002Bronchial papilloma
HP:0033001Laryngeal papilloma
HP:0100605Neoplasm of the larynx
HP:0033000Subglottic laryngitis
HP:0033006Diffuse alveolar damage
http://purl.obolibrary.org/obo/CHEBI_16042halide anion
http://purl.obolibrary.org/obo/CHEBI_33429monoatomic monoanion
http://purl.obolibrary.org/obo/CHEBI_23905monoatomic anion
http://purl.obolibrary.org/obo/CHEBI_79389monovalent inorganic anion
HP:0033005Plantar warts
HP:0033004Palmar warts
HP:0500037Nasolacrimal sac epithelial papillary carcinoma
HP:0033003Tracheal papilloma
HP:0100551Neoplasm of the trachea
HP:0008093Short 4th toe
HP:0500036Nasolacrimal sac papilloma
HP:0500035Nasolacrimal sac granuloma
HP:0500034Nasolacrimal sac obstruction
HP:0008090Ankylosis of feet small joints
HP:0008097Partial fusion of tarsals
HP:0500031Sclerosis of the carpal bones
HP:0500032Abnormal neuron branching
HP:0008096Medially deviated second toe
HP:0008095Osteolysis of talus
HP:0009134Osteolysis involving bones of the feet
HP:0009139Osteolysis involving bones of the lower limbs
HP:0008094Widely spaced toes
HP:0500030Abnormal hepatic glycogen storage
http://purl.obolibrary.org/obo/GO_0000096sulfur amino acid metabolic process
http://purl.obolibrary.org/obo/UBERON_0011757differentiated genital tubercle
HP:0008087Nonossified fifth metatarsal
HP:0008371Abnormal metatarsal ossification
http://purl.obolibrary.org/obo/GO_0099699integral component of synaptic membrane
http://purl.obolibrary.org/obo/GO_0099240intrinsic component of synaptic membrane
http://purl.obolibrary.org/obo/GO_0005887integral component of plasma membrane
http://purl.obolibrary.org/obo/GO_0031226intrinsic component of plasma membrane
HP:0033009Increased fecal coproporphyrin 1
HP:0033008Increased Z-disc width
HP:0033007Architectural distortion of the lung
http://purl.obolibrary.org/obo/UBERON_0011756male genital swelling
http://purl.obolibrary.org/obo/UBERON_0011755female labial swelling
http://purl.obolibrary.org/obo/UBERON_0011754genital swelling
http://purl.obolibrary.org/obo/PATO_0000318blue
http://purl.obolibrary.org/obo/PATO_0000319cyan
http://purl.obolibrary.org/obo/CHEBI_160105-oxoproline
http://purl.obolibrary.org/obo/CHEBI_74223pyrrolidin-2-ones
http://purl.obolibrary.org/obo/CHEBI_74222gamma-lactam
http://purl.obolibrary.org/obo/CHEBI_25801oxoproline
http://purl.obolibrary.org/obo/CHEBI_38275pyrrolidinone
HP:0500048Delayed canalization of nasolacrimal duct
HP:0500046Seborrhoeic blepharitis
HP:0025610Posterior blepharitis
HP:0000498Blepharitis
HP:0500047Nasolacrimal sac lymphoma
HP:3000066Abnormal lacrimal sac morphology
HP:0500045Collier's sign
HP:0500044Upper eyelid retraction
HP:0500042Latent hypermetropia
HP:0008499High hypermetropia
HP:0000540Hypermetropia
HP:0500040Dermolipoma of the conjunctiva
HP:0500039Conjunctival cicatrization
HP:0500041Myopic astigmatism
HP:0000483Astigmatism
HP:0500050Retinopathy of prematurity stage 1
http://purl.obolibrary.org/obo/UBERON_0011769cartilaginous projection
http://purl.obolibrary.org/obo/UBERON_0008115surface of cartilage
http://purl.obolibrary.org/obo/CHEBI_16015L-glutamic acid
http://purl.obolibrary.org/obo/CHEBI_18237glutamic acid
http://purl.obolibrary.org/obo/UBERON_0011767right recurrent laryngeal nerve
http://purl.obolibrary.org/obo/GO_2000181negative regulation of blood vessel morphogenesis
http://purl.obolibrary.org/obo/UBERON_0011766left recurrent laryngeal nerve
HP:0500059Retinopathy of prematurity zone I
HP:0500057Retinopathy of prematurity stage 5a
http://purl.obolibrary.org/obo/GO_0097060synaptic membrane
http://purl.obolibrary.org/obo/GO_0098590plasma membrane region
HP:0500058Retinopathy of prematurity stage 5b
HP:0500055Retinopathy of prematurity stage 4b
http://purl.obolibrary.org/obo/PATO_0000300immobile
HP:0500056Retinopathy of prematurity stage 5
HP:0500054Retinopathy of prematurity stage 4a
HP:0500053Retinopathy of prematurity stage 4
HP:0500051Retinopathy of prematurity stage 2
HP:0500052Retinopathy of prematurity stage 3
HP:0500060Retinopathy of prematurity zone II
HP:0500061Retinopathy of prematurity zone III
http://purl.obolibrary.org/obo/CHEBI_16024D-mannose
http://purl.obolibrary.org/obo/CHEBI_17608D-aldohexose
http://purl.obolibrary.org/obo/CHEBI_4194D-hexose
http://purl.obolibrary.org/obo/CHEBI_37684mannose
http://purl.obolibrary.org/obo/UBERON_0011773upper jaw opening
http://purl.obolibrary.org/obo/UBERON_0011772lower jaw opening
http://purl.obolibrary.org/obo/GO_0036066protein O-linked fucosylation
http://purl.obolibrary.org/obo/GO_0006493protein O-linked glycosylation
http://purl.obolibrary.org/obo/GO_0006486protein glycosylation
http://purl.obolibrary.org/obo/GO_0006464cellular protein modification process
http://purl.obolibrary.org/obo/GO_0036211protein modification process
http://purl.obolibrary.org/obo/GO_0043413macromolecule glycosylation
http://purl.obolibrary.org/obo/GO_0043412macromolecule modification
http://purl.obolibrary.org/obo/GO_0036065fucosylation
http://purl.obolibrary.org/obo/GO_0070085glycosylation
http://purl.obolibrary.org/obo/UBERON_0011777nucleus of spinal cord
http://purl.obolibrary.org/obo/UBERON_0011775vagus nerve nucleus
http://purl.obolibrary.org/obo/UBERON_0000126cranial nerve nucleus
HP:0011681Subarterial ventricular septal defect
HP:0011682Perimembranous ventricular septal defect
HP:0011683Restrictive ventricular septal defect
HP:0011684Non-restrictive ventricular septal defect
HP:0001629Ventricular septal defect
HP:0011685Infra-aortic superior vena cava
HP:0011686Abnormal coronary artery course
HP:0011687AV nodal tachycardia
HP:0500069Paralytic ectropion
HP:0500066Latent myopia
HP:0000545Myopia
HP:0000539Abnormality of refraction
HP:0500064Retinopathy of prematurity threshold
HP:0500065Retinopathy of prematurity prethreshold
HP:0008041Late onset congenital glaucoma
HP:0001087Developmental glaucoma
HP:0500062Retinopathy of prematurity plus
HP:0011680Single ventricle of indeterminate morphology
HP:0001750Single ventricle
HP:0500063Retinopathy of prematurity pre-plus
HP:0500049Retinopathy of prematurity
HP:0000488Retinopathy
http://purl.obolibrary.org/obo/CHEBI_160701,5-anhydro-D-glucitol
HP:0008035Retinitis pigmentosa inversa
HP:0045026Abnormality of the mediastinum
HP:0500072Absolute eccentric fixation
HP:0025549Eccentric visual fixation
HP:0025404Abnormal visual fixation
HP:0045027Abnormality of the thoracic cavity
HP:0045028Microlissencephaly
HP:0500070Conjunctival dermolipoma
HP:0045029Eosinophilic fasciitis
HP:0100537Fasciitis
HP:0100536Abnormality of the fascia
http://purl.obolibrary.org/obo/CHEBI_28044phenylalanine
http://purl.obolibrary.org/obo/CHEBI_33856aromatic amino acid
HP:0008039Subepithelial corneal opacities
HP:0008037Absent anterior chamber of the eye
http://purl.obolibrary.org/obo/GO_0036075replacement ossification
http://purl.obolibrary.org/obo/GO_0001503ossification
HP:0011692Supraventricular tachycardia with a concealed accessory pathway on the right free wall
HP:0011693Supraventricular tachycardia with a concealed accessory pathway on the septum
HP:0011695Cerebellar hemorrhage
HP:0011696Supraventricular tachycardia with a manifest accessory pathway on the left free wall
http://purl.obolibrary.org/obo/PATO_0000327low brightness
http://purl.obolibrary.org/obo/PATO_0000016color brightness
HP:0011697Supraventricular tachycardia with a manifest accessory pathway on the right free wall
http://purl.obolibrary.org/obo/PATO_0000328low saturation
http://purl.obolibrary.org/obo/PATO_0000017color saturation
http://purl.obolibrary.org/obo/PATO_0001301chromatic property
HP:0011698Supraventricular tachycardia with a manifest accessory pathway on the septum
HP:0011694Supraventricular tachycardia with a manifest accessory pathway
HP:0011699Atrial reentry tachycardia
http://purl.obolibrary.org/obo/PATO_0000323white
HP:0500079Alternating hypophoria
HP:0031725Hypophoria
HP:0500077Alternating hyperphoria
HP:0025585Hyperphoria
HP:0500078Alternating hypotropia
HP:0025584Hypotropia
HP:0025588Hypodeviation
http://purl.obolibrary.org/obo/PATO_0000322red
HP:0500075Dissociated horizontal deviation
HP:0008052Retinal fold
http://purl.obolibrary.org/obo/PATO_0000320green
http://purl.obolibrary.org/obo/PATO_0000014color
http://purl.obolibrary.org/obo/PATO_0001300optical quality
http://purl.obolibrary.org/obo/PATO_0001291electromagnetic (EM) radiation quality
http://purl.obolibrary.org/obo/PATO_0001739radiation quality
HP:0500076Alternating hypertropia
HP:0025586Hypertropia
HP:0025587Hyperdeviation
HP:0011690Permanent junctional reciprocating tachycardia
http://purl.obolibrary.org/obo/CHEBI_16080gamma-amino-beta-hydroxybutyric acid
http://purl.obolibrary.org/obo/CHEBI_33707gamma-amino acid
HP:0011691Supraventricular tachycardia with a concealed accessory pathway on the left free wall
HP:0011689Supraventricular tachycardia with a concealed accessory connection
HP:0011688Supraventricular tachycardia with an accessory connection mediated pathway
HP:0004755Supraventricular tachycardia
HP:0500074Dissociated vertical deviation
HP:0500073Abnormal ocular alignment
HP:0008045Enlarged flash visual evoked potentials
HP:0045038Gastric lymphoma
HP:0006753Neoplasm of the stomach
HP:0008043Retinal arteriolar constriction
HP:0500081Pseudophakia
HP:0045034Elevated urinary aminoisobutyric acid
HP:0045035Decreased urinary copper concentration
http://purl.obolibrary.org/obo/CHEBI_53000epitope
HP:0500088Foveal depigmentation
HP:0012643Foveal hypopigmentation
HP:0500089Optic nerve sheath meningioma
HP:0002858Meningioma
HP:0500086Optic nerve gray crescent
HP:0012511Temporal optic disc pallor
HP:0500087Peripapillary atrophy
HP:0012512Diffuse optic disc pallor
HP:0000543Optic disc pallor
HP:0045004Abnormal ossification of the trapezoid bone
HP:0004256Abnormality of the trapezoid bone
HP:0500094Latex allergy
HP:0500091Lymphangioma of the orbit
HP:0045006Aplasia of lymphatic vessels
HP:0500092Orbital rhabdomyosarcoma
HP:0002859Rhabdomyosarcoma
HP:0045007Abnormality of the substantia nigra
http://purl.obolibrary.org/obo/GO_0097028dendritic cell differentiation
HP:0500090Periocular capillary hemangioma
HP:0045002Absent ossification of the trapezium
HP:0045001Abnormal ossification of the trapezium
HP:0004252Abnormality of the trapezium
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6563LGALS3 (human)
HP:0045003Abnormal ossification of the scaphoid
HP:0006257Abnormality of carpal bone ossification
HP:0033024Transient decreased circulating IgA
HP:0033023Chronic absent circulating IgE
HP:0033022Chronic decreased circulating IgE
HP:0033021Transient decreased circulating IgE
HP:0033027Retinal peau d'orange
HP:0033026White oral mucosal macule
HP:0033025Chronic absent circulating total IgG
HP:0008071Maternal hypertension
HP:0100603Toxemia of pregnancy
HP:0008075Progressive pes cavus
HP:0001761Pes cavus
HP:0008074Metatarsal periosteal thickening
HP:0500095Food-induced anaphylaxis
HP:0008073Low maternal serum estriol
HP:0011436Abnormal maternal serum screening
HP:0500096Venom-induced anaphylaxis
HP:0008072Maternal virilization in pregnancy
http://purl.obolibrary.org/obo/CHEBI_28050homocarnosine
http://purl.obolibrary.org/obo/GO_0097014ciliary plasm
HP:0045018Partial duplication of eyebrows
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6553LEP (human)
HP:0045011Decreased urine bicarbonate concentration
HP:0011279Abnormality of urine bicarbonate concentration
HP:0045012Decreased urinary catecholamine concentration
HP:0033029Anti-Jo-1 antibody positivity
http://purl.obolibrary.org/obo/CL_0011108colon epithelial cell
http://purl.obolibrary.org/obo/CL_0002253epithelial cell of large intestine
http://purl.obolibrary.org/obo/CL_0002563intestinal epithelial cell
http://purl.obolibrary.org/obo/CL_0011101chorionic trophoblast cell
http://purl.obolibrary.org/obo/CL_0000351trophoblast cell
http://purl.obolibrary.org/obo/CL_0000349extraembryonic cell
http://purl.obolibrary.org/obo/CHEBI_16449alanine
http://purl.obolibrary.org/obo/PR_P02772alpha-fetoprotein (mouse)
http://purl.obolibrary.org/obo/PR_P02771alpha-fetoprotein (human)
http://purl.obolibrary.org/obo/PR_000003809alpha-fetoprotein
http://purl.obolibrary.org/obo/CL_0011113spiral ganglion neuron
http://purl.obolibrary.org/obo/PR_P02786PR:P02786 located_in GO:0000139
http://purl.obolibrary.org/obo/PR_000001945transferrin receptor protein 1
http://purl.obolibrary.org/obo/GO_2000035regulation of stem cell division
http://purl.obolibrary.org/obo/GO_0051302regulation of cell division
http://purl.obolibrary.org/obo/GO_0036477somatodendritic compartment
http://purl.obolibrary.org/obo/GO_2000027regulation of animal organ morphogenesis
http://purl.obolibrary.org/obo/PR_P02724glycophorin-A (human)
http://purl.obolibrary.org/obo/PR_000001460glycophorin-A
http://purl.obolibrary.org/obo/PR_000001352glycophorin
http://purl.obolibrary.org/obo/CHEBI_41402carboxymethyl group
http://purl.obolibrary.org/obo/PATO_0000516sensitive toward
http://purl.obolibrary.org/obo/PATO_0000513insensitive toward
HP:0011807Type 1 muscle fiber atrophy
HP:0100295Muscle fiber atrophy
HP:0011808Decreased patellar reflex
HP:0002600Hyporeflexia of lower limbs
HP:0001265Hyporeflexia
HP:0011809Paradoxical myotonia
HP:0002486Myotonia
HP:0011800Midface retrusion
HP:0011801Enlargement of parotid gland
HP:0011802Hamartoma of tongue
HP:0011803Bifid nose
HP:0004122Midline defect of the nose
HP:0011818Nasofrontal encephalocele
HP:0011819Submucous cleft soft palate
HP:0000185Cleft soft palate
http://purl.obolibrary.org/obo/GO_0061448connective tissue development
http://purl.obolibrary.org/obo/CL_3000000ciliated epithelial cell of esophagus
http://purl.obolibrary.org/obo/CL_0002252epithelial cell of esophagus
http://purl.obolibrary.org/obo/CL_0002251epithelial cell of alimentary canal
http://purl.obolibrary.org/obo/CL_0002076endo-epithelial cell
http://purl.obolibrary.org/obo/CL_0000067ciliated epithelial cell
http://purl.obolibrary.org/obo/CL_0000064ciliated cell
http://purl.obolibrary.org/obo/CHEBI_137982tertiary ammonium ion
HP:0011810Impaired two-point discrimination
http://purl.obolibrary.org/obo/GO_0048469cell maturation
HP:0011811Impaired touch localization
HP:0011812Agraphesthesia
HP:0011814Increased urinary hypoxanthine
HP:0011816Parietal encephalocele
HP:0011817Basal encephalocele
HP:0011820Membranous choanal atresia
HP:0000453Choanal atresia
HP:0000415Abnormality of the choanae
http://purl.obolibrary.org/obo/UBERON_5001463manual digit 1 plus metapodial segment
HP:0011829Narrow philtrum
HP:0011822Broad chin
HP:0011823Chin with horizontal crease
HP:0011824Chin with H-shaped crease
HP:0011825Tented philtrum
HP:0011826Philtrum with midline raphe
HP:0011827Malaligned philtral ridges
HP:0011828Midline sinus of philtrum
HP:0011831Deviated nasal tip
HP:0011832Narrow nasal tip
HP:0011833Overhanging nasal tip
HP:0011834Moyamoya phenomenon
HP:0011835Absent scaphoid
HP:0004231Carpal bone aplasia
HP:0006502Aplasia/Hypoplasia involving the carpal bones
HP:0004243Abnormality of the scaphoid
HP:0011836Delayed talus ossification
HP:0011837Partial IgA deficiency
HP:0011838Sclerodactyly
http://purl.obolibrary.org/obo/CL_1000042forebrain neuroblast
http://purl.obolibrary.org/obo/CL_0000031neuroblast (sensu Vertebrata)
http://purl.obolibrary.org/obo/CL_1000090pronephric nephron tubule epithelial cell
HP:0011760Pituitary growth hormone cell adenoma
HP:0011761Pituitary null cell adenoma
http://purl.obolibrary.org/obo/UBERON_0035650nerve of clitoris
HP:0011762Pituitary thyrotropic cell adenoma
http://purl.obolibrary.org/obo/PR_Q10469PR:Q10469 located_in GO:0000139
HP:0011763Pituitary carcinoma
HP:0011764Pituitary spindle cell oncocytoma
http://purl.obolibrary.org/obo/PATO_0000499decreased duration
http://purl.obolibrary.org/obo/PATO_0000498increased duration
http://purl.obolibrary.org/obo/PATO_0001309duration
HP:0008112Plantar flexion contractures
HP:0008111Broad distal hallux
HP:0010055Broad hallux
HP:0001837Broad toe
HP:0008110Equinovarus deformity
HP:0008116Flexion limitation of toes
HP:0008115Clinodactyly of the 3rd toe
HP:0010332Deviation of the 3rd toe
HP:0008114Metatarsal diaphyseal endosteal sclerosis
HP:0008113Multiple plantar creases
HP:0008119Deformed tarsal bones
HP:0008117Shortening of the talar neck
HP:0008365Abnormality of the talus
HP:0011769Ectopic parathyroid
http://purl.obolibrary.org/obo/UBERON_0035652fibular nerve
HP:0011770Tertiary hyperparathyroidism
HP:0011771Autoimmune hypoparathyroidism
http://purl.obolibrary.org/obo/GO_1902262apoptotic process involved in blood vessel morphogenesis
http://purl.obolibrary.org/obo/GO_0060561apoptotic process involved in morphogenesis
http://purl.obolibrary.org/obo/GO_1902742apoptotic process involved in development
HP:0011773Uninodular goiter
HP:0011775Thyroid macrofollicular adenoma
HP:0011776Thyroid microfollicular adenoma
HP:0011774Thyroid follicular adenoma
HP:0008122Calcaneonavicular fusion
HP:0008127Bipartite calcaneus
http://purl.obolibrary.org/obo/UBERON_0035649nerve of penis
HP:0008125Second metatarsal posteriorly placed
HP:0008124Talipes calcaneovarus
HP:0011777Thyroid papillary adenoma
HP:0011778Thyroid atypical adenoma
HP:0000854Thyroid adenoma
http://purl.obolibrary.org/obo/UBERON_0035648nerve innervating pinna
HP:0011779Anaplastic thyroid carcinoma
HP:0011780Thyroid hemiagenesis
HP:0011781Thyroid C cell hyperplasia
HP:0011782Thyroid crisis
HP:0011783Thyrotoxicosis from ectopic thyroid tissue
HP:0011784Thyrotoxicosis with diffuse goiter
HP:0011785Thyrotoxicosis with toxic multinodular goiter
HP:0011786Thyrotoxicosis with toxic single thyroid nodule
HP:0000836Hyperthyroidism
HP:0008141Dislocation of toes
HP:0008134Irregular tarsal ossification
HP:0008133Distal tapering of metatarsals
HP:0008132Medial rotation of the medial malleolus
HP:0008131Tarsal stippling
HP:0031051Tarsal sclerosis
HP:0100925Sclerosis of foot bone
HP:0009132Abnormal tarsal bone mineral density
http://purl.obolibrary.org/obo/UBERON_0035639ocular adnexa
HP:0008138Equinus calcaneus
HP:0011788Increased circulating free T3
HP:0011791Inactivating thyroid-stimulating hormone receptor defect
HP:0011795Intralobar nephroblastomatosis
HP:0011796Perilobar nephroblastomatosis
HP:0008643Nephroblastomatosis
HP:0011794Embryonal renal neoplasm
HP:0011797Papillary renal cell carcinoma type 1
HP:0006766Papillary renal cell carcinoma
HP:0011798Renal oncocytoma
HP:0008151Prolonged prothrombin time
HP:0008150Elevated serum transaminases during infections
HP:0002910Elevated hepatic transaminase
HP:0011790Activating thyroid-stimulating hormone receptor defect
HP:0011789Impaired sensitivity to thyroid stimulating hormone
HP:0008144Flattening of the talar dome
HP:0008142Delayed calcaneal ossification
HP:0008364Abnormality of the calcaneus
HP:0008148Impaired epinephrine-induced platelet aggregation
http://purl.obolibrary.org/obo/GO_0061383trabecula morphogenesis
HP:0011720Cardiac total anomalous pulmonary venous connection
HP:0011721Infracardiac total anomalous pulmonary venous connection
HP:0011722Mixed total anomalous pulmonary venous connection
HP:0011724Uhl's anomaly
HP:0011725Chaotic multifocal atrial tachycardia
HP:0011726Persistent fetal circulation
HP:0011727Peroneal muscle weakness
HP:0009053Distal lower limb muscle weakness
HP:0011728Elbow clonus
HP:0002169Clonus
http://purl.obolibrary.org/obo/GO_1902221erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process
HP:0011730Abnormal central sensory function
HP:0011735Adrenocorticotropin deficient adrenal insufficiency
HP:0011737Corticotropin-releasing hormone deficient adrenal insufficiency
HP:0011738Corticotropin-releasing hormone receptor defect
http://purl.obolibrary.org/obo/UBERON_0011678hindlimb intermedium bone
http://purl.obolibrary.org/obo/UBERON_0011677trunk vertebra
http://purl.obolibrary.org/obo/UBERON_0004451trunk or cervical vertebra
HP:0011739Dexamethasone-suppressible primary hyperaldosteronism
http://purl.obolibrary.org/obo/UBERON_0011676subdivision of organism along main body axis
HP:0011740Glucocortocoid-insensitive primary hyperaldosteronism
HP:0011736Primary hyperaldosteronism
HP:0011741Secondary hyperaldosteronism
HP:0000859Hyperaldosteronism
HP:0011742Ectopic adrenal gland
HP:0011743Adrenal gland agenesis
HP:0011744Secondary hypercortisolism
HP:0011745Non-secretory adrenocortical adenoma
HP:0011746Secretory adrenocortical adenoma
HP:0011748Adrenocorticotropic hormone deficiency
HP:0011749Adrenocorticotropic hormone excess
http://purl.obolibrary.org/obo/UBERON_0035662parotid vein
HP:0011754Pituicytoma
HP:0011752Neoplasm of the posterior pituitary
HP:0008103Delayed tarsal ossification
HP:0008102Expanded metatarsals with widened medullary cavities
HP:0011755Ectopic posterior pituitary
HP:0008108Advanced tarsal ossification
HP:0008369Abnormal tarsal ossification
HP:0011756Posterior pituitary agenesis
HP:0008107Plantar crease between first and second toes
HP:0001869Deep plantar creases
http://purl.obolibrary.org/obo/UBERON_0011695embryonic cardiovascular system
http://purl.obolibrary.org/obo/UBERON_0004535cardiovascular system
HP:0011757Posterior pituitary hypoplasia
HP:0011753Posterior pituitary dysgenesis
HP:0011751Abnormality of the posterior pituitary
HP:0011758Pituitary acidophilic stem cell adenoma
HP:0011759Pituitary gonadotropic cell adenoma
http://purl.obolibrary.org/obo/PATO_0000415uncoiled
http://purl.obolibrary.org/obo/PATO_0000413square
http://purl.obolibrary.org/obo/PATO_0000414unbranched
http://purl.obolibrary.org/obo/PATO_0000411circular
http://purl.obolibrary.org/obo/PATO_0000947elliptic
http://purl.obolibrary.org/obo/UBERON_0011628early premaxilla
HP:0008198Congenital hypoparathyroidism
HP:0000829Hypoparathyroidism
HP:0008197Absence of pubertal development
http://purl.obolibrary.org/obo/PATO_0000407flat
http://purl.obolibrary.org/obo/PATO_0000404coiled
http://purl.obolibrary.org/obo/PATO_0001794coiling
http://purl.obolibrary.org/obo/PATO_0000405curled
http://purl.obolibrary.org/obo/PATO_0000402branched
http://purl.obolibrary.org/obo/PATO_0000403cleft
http://purl.obolibrary.org/obo/CHEBI_28358rac-lactic acid
http://purl.obolibrary.org/obo/CHEBI_60911racemate
http://purl.obolibrary.org/obo/CHEBI_53309polyanionic macromolecule
http://purl.obolibrary.org/obo/CHEBI_16374menaquinone
http://purl.obolibrary.org/obo/CHEBI_25185menaquinones
http://purl.obolibrary.org/obo/CHEBI_26254prenylnaphthoquinone
http://purl.obolibrary.org/obo/CHEBI_26255prenylquinone
http://purl.obolibrary.org/obo/CHEBI_28383alpha,omega-dicarboxylic acid
http://purl.obolibrary.org/obo/CHEBI_28384vitamin K
http://purl.obolibrary.org/obo/UBERON_0011642oral epithelium from ectoderm
http://purl.obolibrary.org/obo/UBERON_0011641odontogenic mesenchyme of molar
http://purl.obolibrary.org/obo/UBERON_0011645iliofemoralis muscle
http://purl.obolibrary.org/obo/PATO_0000428sporadic
http://purl.obolibrary.org/obo/PATO_0000427recurrent
http://purl.obolibrary.org/obo/CHEBI_16385organic sulfide
http://purl.obolibrary.org/obo/UBERON_0008000sesamoid bone of pes
HP:0008163Decreased circulating cortisol level
HP:0008162Asymptomatic hyperammonemia
HP:0008161Absent leukocyte alkaline phosphatase
HP:0004852Reduced leukocyte alkaline phosphatase
HP:00081603-hydroxydicarboxylic aciduria
HP:0008153Periodic hypokalemic paresis
HP:0008158Hyperapobetalipoproteinemia
HP:0008167Very long chain fatty acid accumulation
HP:0008166Decreased beta-galactosidase activity
HP:0004342Abnormality of galactoside metabolism
HP:0003649Abnormality of glycoside metabolism
HP:0008165Decreased helper T cell proportion
HP:0500263Abnormal helper T cell proportion
http://purl.obolibrary.org/obo/UBERON_0035606cartilage of external acoustic meatus
http://purl.obolibrary.org/obo/UBERON_0035608dura mater lymph vessel
HP:0008169Reduced factor VII activity
HP:0008181Abetalipoproteinemia
HP:0003563Decreased LDL cholesterol concentration
HP:0008180Mildly elevated creatine kinase
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4268CBLIF (human)
http://purl.obolibrary.org/obo/CHEBI_53368ionic macromolecule
HP:0008185Precocious puberty in males
HP:0008182Adrenocortical hypoplasia
HP:0000849Adrenocortical abnormality
HP:0008178Abnormal cartilage matrix
http://purl.obolibrary.org/obo/UBERON_0011606hyomandibular bone
HP:0008176Neonatal unconjugated hyperbilirubinemia
HP:0008179Decreased Arden ratio of electrooculogram
http://purl.obolibrary.org/obo/UBERON_0011607hyomandibular cartilage
http://purl.obolibrary.org/obo/UBERON_0011608hyomandibular element
http://purl.obolibrary.org/obo/UBERON_0011602gingiva of lower jaw
http://purl.obolibrary.org/obo/UBERON_0011601gingiva of upper jaw
HP:0008191Thyroid agenesis
HP:0008194Multiple pancreatic beta-cell adenomas
http://purl.obolibrary.org/obo/PATO_0000460abnormal
HP:0008193Primary gonadal insufficiency
http://purl.obolibrary.org/obo/PATO_0000461normal
HP:0008189Insulin insensitivity
HP:0008187Absence of secondary sex characteristics
HP:0008186Adrenocortical cytomegaly
http://purl.obolibrary.org/obo/CHEBI_90318EC 6.4.1.1 (pyruvate carboxylase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_76824EC 6.4.1.* (carboxylase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_75604EC 6.4.* (C-C bond-forming ligase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_16313D-proline
http://purl.obolibrary.org/obo/CHEBI_26271proline
http://purl.obolibrary.org/obo/CHEBI_16733D-alpha-amino acid
http://purl.obolibrary.org/obo/GO_0051919positive regulation of fibrinolysis
http://purl.obolibrary.org/obo/GO_0051918negative regulation of fibrinolysis
http://purl.obolibrary.org/obo/GO_0051917regulation of fibrinolysis
http://purl.obolibrary.org/obo/CHEBI_28300glutamine
http://purl.obolibrary.org/obo/CL_0011001spinal cord motor neuron
http://purl.obolibrary.org/obo/CL_2000029central nervous system neuron
http://purl.obolibrary.org/obo/CL_0000100motor neuron
http://purl.obolibrary.org/obo/CL_0000527efferent neuron
http://purl.obolibrary.org/obo/CL_0011007paraxial cell
http://purl.obolibrary.org/obo/CL_0000222mesodermal cell
http://purl.obolibrary.org/obo/PATO_0000617bent
http://purl.obolibrary.org/obo/PATO_0000618bilateral
http://purl.obolibrary.org/obo/CL_1000123metanephric nephron tubule epithelial cell
http://purl.obolibrary.org/obo/CL_1000507kidney tubule cell
http://purl.obolibrary.org/obo/CL_1000449epithelial cell of nephron
http://purl.obolibrary.org/obo/CL_0002518kidney epithelial cell
http://purl.obolibrary.org/obo/CL_1000497kidney cell
http://purl.obolibrary.org/obo/PATO_0000616asymmetrical
http://purl.obolibrary.org/obo/PATO_0000613disoriented
http://purl.obolibrary.org/obo/PATO_0000330irregular spatial pattern
http://purl.obolibrary.org/obo/CL_0011021fibroblast of upper back skin
http://purl.obolibrary.org/obo/CL_0011022fibroblast of skin of back
http://purl.obolibrary.org/obo/CL_0002620skin fibroblast
http://purl.obolibrary.org/obo/CL_0000057fibroblast
http://purl.obolibrary.org/obo/CL_0002320connective tissue cell
http://purl.obolibrary.org/obo/CL_0011012neural crest cell
http://purl.obolibrary.org/obo/CL_0000048multi fate stem cell
http://purl.obolibrary.org/obo/CL_0000034stem cell
http://purl.obolibrary.org/obo/CL_0002321embryonic cell
http://purl.obolibrary.org/obo/CL_0011016flagellated sperm cell
http://purl.obolibrary.org/obo/CL_0011013motile sperm cell
http://purl.obolibrary.org/obo/CL_0000019sperm
http://purl.obolibrary.org/obo/CL_0000408male gamete
http://purl.obolibrary.org/obo/CL_0000015male germ cell
http://purl.obolibrary.org/obo/CL_0000300gamete
http://purl.obolibrary.org/obo/CL_0000413haploid cell
http://purl.obolibrary.org/obo/CL_0000586germ cell
http://purl.obolibrary.org/obo/CL_0000039germ line cell
http://purl.obolibrary.org/obo/PATO_0000619crowded
http://purl.obolibrary.org/obo/CL_0011019mesothelial cell of epicardium
http://purl.obolibrary.org/obo/CL_0002494cardiocyte
http://purl.obolibrary.org/obo/CL_0000077mesothelial cell
http://purl.obolibrary.org/obo/CL_0000213lining cell
http://purl.obolibrary.org/obo/CL_0000215barrier cell
http://purl.obolibrary.org/obo/CL_0000076squamous epithelial cell
http://purl.obolibrary.org/obo/CL_0002078meso-epithelial cell
http://purl.obolibrary.org/obo/CL_0000066epithelial cell
http://purl.obolibrary.org/obo/PATO_0000600increased width
http://purl.obolibrary.org/obo/CL_0011023CD25+ mast cell
http://purl.obolibrary.org/obo/CL_0001063neoplastic cell
http://purl.obolibrary.org/obo/CL_0001061abnormal cell
http://purl.obolibrary.org/obo/CL_0011024double negative T regulatory cell
http://purl.obolibrary.org/obo/CL_0002489double negative thymocyte
http://purl.obolibrary.org/obo/CL_0000893thymocyte
http://purl.obolibrary.org/obo/CL_0002420immature T cell
http://purl.obolibrary.org/obo/CL_0000084T cell
http://purl.obolibrary.org/obo/CL_0000542lymphocyte
http://purl.obolibrary.org/obo/CL_0000842mononuclear cell
http://purl.obolibrary.org/obo/CL_0000738leukocyte
http://purl.obolibrary.org/obo/CL_0000219motile cell
http://purl.obolibrary.org/obo/CL_0000226single nucleate cell
http://purl.obolibrary.org/obo/PATO_0000608closed
http://purl.obolibrary.org/obo/PATO_0000609closure incomplete
http://purl.obolibrary.org/obo/PATO_0000610open
http://purl.obolibrary.org/obo/PATO_0000136closure
http://purl.obolibrary.org/obo/PATO_0000639degenerate
http://purl.obolibrary.org/obo/PATO_0000635unlocalised
http://purl.obolibrary.org/obo/PATO_0000633uncrowded
http://purl.obolibrary.org/obo/PATO_0000634unilateral
http://purl.obolibrary.org/obo/PATO_0000632symmetrical
http://purl.obolibrary.org/obo/PATO_0000965symmetry
http://purl.obolibrary.org/obo/PATO_0000627localized
http://purl.obolibrary.org/obo/PATO_0000625inverted
http://purl.obolibrary.org/obo/PATO_0000623exserted
http://purl.obolibrary.org/obo/GO_0036385nucleoid DNA packaging
HP:0011928Short proximal phalanx of toe
HP:0010184Abnormality of toe proximal phalanx
HP:0011929Hypersegmentation of proximal phalanx of third finger
HP:0011920Transudative pleural effusion
HP:0011921Exudative pleural effusion
http://purl.obolibrary.org/obo/GO_0061311cell surface receptor signaling pathway involved in heart development
HP:0011923Decreased activity of mitochondrial complex I
HP:0011924Decreased activity of mitochondrial complex III
HP:0011925Decreased activity of mitochondrial ATP synthase complex
HP:0008972Decreased activity of mitochondrial respiratory chain
HP:0011926Proximal placement of hallux
HP:0011930Hyperextensible skin of chest
HP:00119393-4 finger cutaneous syndactyly
HP:0011933Elongated superior cerebellar peduncle
HP:0011934Dilatation of mesenteric artery
HP:0002636Dilatation of an abdominal artery
HP:0011935Decreased urinary urate
HP:0011936Decreased plasma total carnitine
HP:0011937Hypoplastic fifth toenail
HP:0001800Hypoplastic toenails
HP:0010624Aplastic/hypoplastic toenail
HP:0001792Small nail
HP:0008386Aplasia/Hypoplasia of the nails
http://purl.obolibrary.org/obo/GO_0051985negative regulation of chromosome segregation
HP:0011940Anterior wedging of T12
HP:0011941Anterior wedging of L2
HP:0008422Vertebral wedging
http://purl.obolibrary.org/obo/GO_0051984positive regulation of chromosome segregation
http://purl.obolibrary.org/obo/GO_0051983regulation of chromosome segregation
http://purl.obolibrary.org/obo/GO_0000313organellar ribosome
http://purl.obolibrary.org/obo/GO_0005840ribosome
HP:0011942Increased urinary sulfite
HP:0011943Increased urinary thiosulfate
HP:0011944Small vessel vasculitis
HP:0011945Bronchiolitis obliterans organizing pneumonia
HP:0011946Bronchiolitis obliterans
http://purl.obolibrary.org/obo/UBERON_0035597profundal placode
http://purl.obolibrary.org/obo/UBERON_0009955neurogenic placode
http://purl.obolibrary.org/obo/UBERON_0002546cranial placode
http://purl.obolibrary.org/obo/UBERON_0005085ectodermal placode
HP:0011949Acute infectious pneumonia
HP:0011950Bronchiolitis
HP:0011948Recurrent acute respiratory tract infection
HP:0011952Acute aspiration pneumonia
HP:0011951Aspiration pneumonia
HP:0002090Pneumonia
http://purl.obolibrary.org/obo/GO_0051971positive regulation of transmission of nerve impulse
http://purl.obolibrary.org/obo/GO_0031646positive regulation of nervous system process
http://purl.obolibrary.org/obo/GO_0051970negative regulation of transmission of nerve impulse
http://purl.obolibrary.org/obo/GO_0031645negative regulation of nervous system process
HP:0008303Olivary degeneration
HP:0008301Dermatan sulfate excretion in urine
HP:0008155Mucopolysacchariduria
HP:0003541Urinary glycosaminoglycan excretion
HP:0011953Pulmonary lymphoma
HP:0008306Abnormal iron deposition in mitochondria
HP:0011954Nodular regenerative hyperplasia of liver
HP:0011955Hepatic granulomatosis
HP:0008305Exercise-induced myoglobinuria
HP:0002913Myoglobinuria
HP:0011956Intestinal lymphoid nodular hyperplasia
HP:0011958Retinal perforation
HP:0008309Medium chain dicarboxylic aciduria
HP:0011959Unilateral hypoplasia of pectoralis major muscle
http://purl.obolibrary.org/obo/GO_0051969regulation of transmission of nerve impulse
http://purl.obolibrary.org/obo/GO_0000323lytic vacuole
http://purl.obolibrary.org/obo/GO_0005773vacuole
http://purl.obolibrary.org/obo/GO_0043231intracellular membrane-bounded organelle
HP:0011906Reduced beta/alpha synthesis ratio
HP:0011907Reduced alpha/beta synthesis ratio
HP:0011908Unilateral radial aplasia
HP:0003974Absent radius
HP:0006501Aplasia/Hypoplasia of the radius
HP:0011909Flattened metacarpal heads
HP:0011900Hypofibrinogenemia
HP:0011901Dysfibrinogenemia
HP:0011903HbH hemoglobin
HP:0011904Persistence of hemoglobin F
HP:0011905Reduced hemoglobin A
http://purl.obolibrary.org/obo/GO_0051931regulation of sensory perception
http://purl.obolibrary.org/obo/GO_0031644regulation of nervous system process
HP:0011917Short 5th toe
HP:0011918Clinodactyly of the 4th toe
HP:0010338Deviation of the 4th toe
HP:0011919Pleural empyema
HP:0002202Pleural effusion
HP:0011910Shortening of all phalanges of fingers
HP:0011912Abnormality of the glenoid fossa
HP:0000782Abnormality of the scapula
HP:0011913Lumbar hypertrichosis
HP:0011914Thoracic hypertrichosis
HP:0011916Toe extensor amyotrophy
HP:0001436Abnormality of the foot musculature
HP:0011880Acute disseminated intravascular coagulation
HP:0011881Decreased platelet glycoprotein VI
HP:0011882Decreased platelet P2Y12 receptor
http://purl.obolibrary.org/obo/UBERON_0011583stylopodial skeleton
HP:0011884Abnormal umbilical stump bleeding
HP:0011886Hyphema
http://purl.obolibrary.org/obo/PR_P51683C-C chemokine receptor type 2 (mouse)
HP:0008240Secondary growth hormone deficiency
HP:0000824Growth hormone deficiency
HP:0008233Decreased circulating progesterone
HP:0031212Abnormal circulating progesterone level
HP:0008232Elevated circulating follicle stimulating hormone level
HP:0000837Increased circulating gonadotropin level
HP:0010514Hyperpituitarism
HP:0008231Macronodular adrenal hyperplasia
http://purl.obolibrary.org/obo/PR_P51677C-C chemokine receptor type 3 (human)
HP:0008237Hypothalamic hypothyroidism
http://purl.obolibrary.org/obo/PR_P51678probable C-C chemokine receptor type 3 (mouse)
http://purl.obolibrary.org/obo/PR_000001255C-C chemokine receptor type 3
http://purl.obolibrary.org/obo/UBERON_0035539esophageal artery
HP:0008236Isosexual precocious puberty
http://purl.obolibrary.org/obo/PR_P51675C-C chemokine receptor type 1 (mouse)
http://purl.obolibrary.org/obo/PR_000001254C-C chemokine receptor type 1
http://purl.obolibrary.org/obo/PR_000001197chemokine receptor CCR1/3/1L
http://purl.obolibrary.org/obo/UBERON_0011587pre-dentine
HP:0011887Choroid hemorrhage
HP:0011888Bleeding requiring red cell transfusion
HP:0008239Adrenal medullary hypoplasia
HP:0011889Bleeding with minor or no trauma
http://purl.obolibrary.org/obo/UBERON_0011584zeugopodial skeleton
http://purl.obolibrary.org/obo/UBERON_0011588pre-enamel
http://purl.obolibrary.org/obo/UBERON_0011590commissure of diencephalon
HP:0011891Post-partum hemorrhage
HP:0011892Low levels of vitamin K
HP:0100831Abnormality of vitamin K metabolism
HP:0011894Impaired thromboxane A2 agonist-induced platelet aggregation
http://purl.obolibrary.org/obo/UBERON_0011592future upper lip
HP:0011896Subconjunctival hemorrhage
HP:0008251Congenital goiter
HP:0008250Infantile hypercalcemia
HP:0008244Congenital adrenal hypoplasia
HP:0000835Adrenal hypoplasia
HP:0008242Pseudohypoaldosteronism
http://purl.obolibrary.org/obo/UBERON_0035529left common iliac artery
HP:0008247Euthyroid hyperthyroxinemia
http://purl.obolibrary.org/obo/CHEBI_65256antimicrobial food preservative
http://purl.obolibrary.org/obo/CHEBI_65255food preservative
http://purl.obolibrary.org/obo/CHEBI_64047food additive
HP:0008245Pituitary hypothyroidism
HP:0011787Central hypothyroidism
HP:0011899Hyperfibrinogenemia
HP:0011898Abnormality of circulating fibrinogen
http://purl.obolibrary.org/obo/UBERON_0011596future lower lip
http://purl.obolibrary.org/obo/UBERON_0011595jaw region
http://purl.obolibrary.org/obo/UBERON_0035523anterior surface of prostate
HP:0008261Pancreatic islet cell adenoma
HP:0006476Abnormality of the pancreatic islet cells
HP:0012093Abnormality of endocrine pancreas physiology
HP:0002894Neoplasm of the pancreas
HP:0008255Transient neonatal diabetes mellitus
HP:0000857Neonatal insulin-dependent diabetes mellitus
HP:0000831Insulin-resistant diabetes mellitus
HP:0000855Insulin resistance
HP:0008259Adrenocorticotropin receptor defect
HP:0011734Central adrenal insufficiency
HP:0008258Congenital adrenal hyperplasia
HP:0008256Adrenocortical adenoma
HP:0100641Neoplasm of the adrenal cortex
HP:0100631Neoplasm of the adrenal gland
HP:0008273Transient aminoaciduria
HP:0008272Renal tubular lysine transport defect
HP:0008271Abnormal cartilage collagen
HP:0008265Mitochondrial lysine transport defect
HP:0008263Thyroid defect in oxidation and organification of iodide
HP:0008269Increased red cell hemolysis by shear stress
http://purl.obolibrary.org/obo/CHEBI_532912-halophenol
HP:0011841Ventricular flutter
HP:0004756Ventricular tachycardia
HP:0001649Tachycardia
HP:0011845Short second metatarsal
HP:0011846Osteoblastoma
HP:0011847Giant cell tumor of bone
HP:0011848Abdominal colic
http://purl.obolibrary.org/obo/GO_1902340negative regulation of chromosome condensation
http://purl.obolibrary.org/obo/GO_0060623regulation of chromosome condensation
http://purl.obolibrary.org/obo/GO_2001251negative regulation of chromosome organization
http://purl.obolibrary.org/obo/GO_0033044regulation of chromosome organization
HP:0011850Parotitis
HP:0011851Hemopericardium
HP:0011852Chylopericardium
HP:0011853Serous pericardial effusion
HP:0001698Pericardial effusion
HP:0008200Primary hyperparathyroidism
HP:0000843Hyperparathyroidism
HP:0011767Abnormality of the parathyroid physiology
HP:0008204Precocious puberty with Sertoli cell tumor
HP:0100619Sertoli cell neoplasm
HP:0000826Precocious puberty
HP:0100000Early onset of sexual maturation
HP:0008202Reduced circulating prolactin concentration
HP:0008208Parathyroid hyperplasia
HP:0011854Hemoperitoneum
HP:0008207Primary adrenal insufficiency
HP:0000846Adrenal insufficiency
HP:0011855Pharyngeal edema
HP:0011856Pica
HP:0008205Insulin-dependent but ketosis-resistant diabetes
HP:0011857Plasmacytoma
HP:0011858Reduced factor IX activity
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4191GCG (human)
HP:0011859Punctate keratitis
HP:0000491Keratitis
HP:0008209Premature ovarian insufficiency
HP:0031066Abnormal ovarian physiology
http://purl.obolibrary.org/obo/UBERON_0035550superficial vein
http://purl.obolibrary.org/obo/UBERON_0035552deep vein
http://purl.obolibrary.org/obo/UBERON_0035551deep vasculature
HP:0011860Metaphyseal dappling
HP:0011861Bilateral trilobed lungs
HP:0002101Abnormal lung lobation
HP:0011862Abnormal bone collagen fibril morphology
HP:0011863Abnormal sternal ossification
HP:0011864Elevated plasma pyrophosphate
http://purl.obolibrary.org/obo/GO_1902339positive regulation of apoptotic process involved in morphogenesis
http://purl.obolibrary.org/obo/GO_1904747positive regulation of apoptotic process involved in development
http://purl.obolibrary.org/obo/GO_0043065positive regulation of apoptotic process
http://purl.obolibrary.org/obo/GO_0043068positive regulation of programmed cell death
http://purl.obolibrary.org/obo/GO_1902338negative regulation of apoptotic process involved in morphogenesis
http://purl.obolibrary.org/obo/GO_1904746negative regulation of apoptotic process involved in development
http://purl.obolibrary.org/obo/GO_0043066negative regulation of apoptotic process
http://purl.obolibrary.org/obo/GO_0043069negative regulation of programmed cell death
http://purl.obolibrary.org/obo/GO_0060548negative regulation of cell death
http://purl.obolibrary.org/obo/GO_1902337regulation of apoptotic process involved in morphogenesis
http://purl.obolibrary.org/obo/GO_1904748regulation of apoptotic process involved in development
http://purl.obolibrary.org/obo/GO_0042981regulation of apoptotic process
http://purl.obolibrary.org/obo/GO_0043067regulation of programmed cell death
HP:0008211Parathyroid agenesis
HP:0011768Parathyroid dysgenesis
HP:0011766Abnormality of the parathyroid morphology
HP:0000828Abnormality of the parathyroid gland
HP:0008214Decreased serum estradiol
HP:0025133Abnormal serum estradiol
HP:0025132Abnormal circulating estrogen level
HP:0008213Gonadotropin deficiency
http://purl.obolibrary.org/obo/UBERON_0011565lumen of gastrointestinal system
HP:0008216Adrenal gland dysgenesis
HP:0011868Sciatica
http://purl.obolibrary.org/obo/UBERON_0035554right cardiac chamber
http://purl.obolibrary.org/obo/UBERON_0035553left cardiac chamber
http://purl.obolibrary.org/obo/UBERON_0011566lumen of esophagus
HP:0011870Impaired arachidonic acid-induced platelet aggregation
HP:0011871Impaired ristocetin-induced platelet aggregation
HP:0011872Impaired thrombin-induced platelet aggregation
HP:0003540Impaired platelet aggregation
HP:0011874Heparin-induced thrombocytopenia
HP:0008222Female infertility
HP:0000868Decreased fertility in females
HP:0008221Adrenal hyperplasia
HP:0011732Abnormality of adrenal morphology
HP:0008226Androgen insufficiency
HP:0008225Thyroid follicular hyperplasia
HP:0008249Thyroid hyperplasia
http://purl.obolibrary.org/obo/GO_0002922positive regulation of humoral immune response
http://purl.obolibrary.org/obo/GO_0050778positive regulation of immune response
http://purl.obolibrary.org/obo/GO_0002921negative regulation of humoral immune response
http://purl.obolibrary.org/obo/GO_0050777negative regulation of immune response
http://purl.obolibrary.org/obo/GO_0002920regulation of humoral immune response
http://purl.obolibrary.org/obo/GO_0050776regulation of immune response
HP:0008223Compensated hypothyroidism
HP:0000821Hypothyroidism
http://purl.obolibrary.org/obo/UBERON_0011576supraorbital ridge
http://purl.obolibrary.org/obo/UBERON_0035546uveal vein
HP:0008229Thyroid lymphangiectasia
http://purl.obolibrary.org/obo/UBERON_0011575styloid process of ulna
http://purl.obolibrary.org/obo/UBERON_0035549vasculature of integument
http://purl.obolibrary.org/obo/UBERON_0011574mesonephric duct lumen
http://purl.obolibrary.org/obo/UBERON_0005082tube lumen
http://purl.obolibrary.org/obo/UBERON_0035548colic artery
HP:0008227Pituitary resistance to thyroid hormone
HP:0011879Decreased platelet glycoprotein Ib-IX-V
HP:0011878Abnormal platelet membrane protein expression
http://purl.obolibrary.org/obo/UBERON_0035545deep lymphatic vessel
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4164GAST (human)
http://purl.obolibrary.org/obo/CHEBI_16285phytanic acid
http://purl.obolibrary.org/obo/CHEBI_15904long-chain fatty acid
http://purl.obolibrary.org/obo/CHEBI_39417branched-chain saturated fatty acid
http://purl.obolibrary.org/obo/CHEBI_26607saturated fatty acid
http://purl.obolibrary.org/obo/CHEBI_62499methyl-branched fatty acid
http://purl.obolibrary.org/obo/CHEBI_35819branched-chain fatty acid
http://purl.obolibrary.org/obo/CHEBI_28260galactose
http://purl.obolibrary.org/obo/CHEBI_33917aldohexose
http://purl.obolibrary.org/obo/CHEBI_18133hexose
http://purl.obolibrary.org/obo/CHEBI_15693aldose
http://purl.obolibrary.org/obo/GO_1990904ribonucleoprotein complex
http://purl.obolibrary.org/obo/PATO_0000547photosensitive
http://purl.obolibrary.org/obo/PATO_0000546photoinsensitive
http://purl.obolibrary.org/obo/PATO_0000927photosensitivity
http://purl.obolibrary.org/obo/PATO_0000085sensitivity toward
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4171GATA2 (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4170GATA1 (human)
HP:0008283Fasting hyperinsulinemia
HP:0000842Hyperinsulinemia
HP:0008282Unconjugated hyperbilirubinemia
http://purl.obolibrary.org/obo/PATO_0000570increased height
HP:0008281Acute hyperammonemia
HP:0001987Hyperammonemia
HP:0008277Abnormal blood zinc concentration
HP:0008279Transient hyperlipidemia
HP:0008278Cerebellar cortical atrophy
http://purl.obolibrary.org/obo/PATO_0000569decreased height
http://purl.obolibrary.org/obo/PATO_0000119height
HP:0008291Pituitary corticotropic cell adenoma
HP:0002893Pituitary adenoma
HP:0011750Neoplasm of the anterior pituitary
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4116GALE (human)
HP:0008290Partial complement factor H deficiency
HP:0008293Long-chain dicarboxylic aciduria
HP:0008288Nonketotic hyperglycinemia
HP:0002154Hyperglycinemia
HP:0008285Transient hypophosphatemia
HP:0002148Hypophosphatemia
HP:0100529Abnormal blood phosphate concentration
http://purl.obolibrary.org/obo/GO_0097237cellular response to toxic substance
http://purl.obolibrary.org/obo/PATO_0000599decreased width
http://purl.obolibrary.org/obo/PATO_0000921width
http://purl.obolibrary.org/obo/PATO_0000592decreased thickness
HP:0008297Transient hyperphenylalaninemia
http://purl.obolibrary.org/obo/PATO_0000585hypotrophic
http://purl.obolibrary.org/obo/PATO_0000596decreased volume
http://purl.obolibrary.org/obo/PATO_0000583decreased weight
http://purl.obolibrary.org/obo/PATO_0000584hypertrophic
http://purl.obolibrary.org/obo/PATO_0000582increased weight
http://purl.obolibrary.org/obo/PATO_0000128weight
http://purl.obolibrary.org/obo/PATO_0000591increased thickness
http://purl.obolibrary.org/obo/PATO_0000915thickness
http://purl.obolibrary.org/obo/GO_0009072aromatic amino acid family metabolic process
http://purl.obolibrary.org/obo/NBO_0000134food consumption
http://purl.obolibrary.org/obo/NBO_0000130liquid consumption
http://purl.obolibrary.org/obo/GO_0009064glutamine family amino acid metabolic process
http://purl.obolibrary.org/obo/GO_0009066aspartate family amino acid metabolic process
http://purl.obolibrary.org/obo/GO_0009069serine family amino acid metabolic process
http://purl.obolibrary.org/obo/NBO_0000129agitation behavior
http://purl.obolibrary.org/obo/NBO_0000128irritability behavior
http://purl.obolibrary.org/obo/NBO_0000121agonistic behavior
http://purl.obolibrary.org/obo/NBO_0000120physical aggression behavior
http://purl.obolibrary.org/obo/GO_0009060aerobic respiration
http://purl.obolibrary.org/obo/GO_0045333cellular respiration
http://purl.obolibrary.org/obo/GO_0015980energy derivation by oxidation of organic compounds
http://purl.obolibrary.org/obo/GO_0055114oxidation-reduction process
HP:0032099Perioral radial furrowing
HP:0032098Hypomanganesemia
HP:0032097Hypermanganesemia
HP:0032092Left ventricular outflow tract obstruction
HP:0032091Translamellar aortic medial fibrosis
HP:0032090Intralamellar aortic medial fibrosis
HP:0032096Abnormal manganese concentration
HP:0032094Increased circulating surfactant protein level
http://purl.obolibrary.org/obo/NBO_0000144mating frequency
http://purl.obolibrary.org/obo/NBO_0000142food aversion
http://purl.obolibrary.org/obo/NBO_0000141food preference
http://purl.obolibrary.org/obo/NBO_0000135food preference/aversion
http://purl.obolibrary.org/obo/GO_0009081branched-chain amino acid metabolic process
http://www.informatics.jax.org/marker/MGI:97489Pax5 (mouse)
http://www.informatics.jax.org/marker/MGI:97473Pah (mouse)
http://purl.obolibrary.org/obo/PR_000026291unmodified amino-acid residue
http://purl.obolibrary.org/obo/NBO_0000119impulsive behavior
http://purl.obolibrary.org/obo/CHEBI_134249alkanesulfonate oxoanion
http://purl.obolibrary.org/obo/CHEBI_33554organosulfonate oxoanion
http://purl.obolibrary.org/obo/CHEBI_134251guaiacols
http://purl.obolibrary.org/obo/CHEBI_25235monomethoxybenzene
http://purl.obolibrary.org/obo/CHEBI_51683methoxybenzenes
HP:0009721Shagreen patch
HP:0100898Connective tissue nevi
HP:0009722Dental enamel pits
HP:0000682Abnormality of dental enamel
HP:3000050Abnormality of odontoid tissue
HP:0009720Adenoma sebaceum
HP:0010615Angiofibromas
HP:0009725Bladder neoplasm
HP:0009724Subungual fibromas
HP:00107131-5 toe syndactyly
HP:00107121-4 toe syndactyly
HP:00014591-3 toe syndactyly
HP:00107111-2 toe syndactyly
HP:0009729Cardiac rhabdomyoma
HP:0100544Neoplasm of the heart
HP:00107152-5 toe syndactyly
HP:00107142-4 toe syndactyly
HP:00046912-3 toe syndactyly
HP:0009727Achromatic retinal patches
HP:00107163-5 toe syndactyly
HP:00046924-5 toe syndactyly
HP:0010717Osseous syndactyly of toes
http://purl.obolibrary.org/obo/UBERON_0035483left suprarenal vein
HP:0430008Accessory eyelid
HP:0010729Cherry red spot of the macula
HP:0430002Abnormality of the lacrimal bone
HP:0009732Plexiform neurofibroma
HP:0430005Abnormality of ethmoid bone
HP:0430004Frontomalar faciosynostosis
HP:0430007Symblepharon
HP:0009730Rhabdomyoma
HP:0009728Neoplasm of striated muscle
HP:0430006Ectopic cilia of eyelid
HP:0009736Tibial pseudarthrosis
HP:0009737Lisch nodules
HP:0009734Optic nerve glioma
HP:0010723Cystic lesions of the pinnae
HP:0009735Spinal neurofibromas
HP:0010724Advanced pneumatization of the mastoid process
HP:0010726Prominent corneal nerve fibers
HP:0010727Spontaneous rupture of the globe
HP:0009739Hypoplasia of the antihelix
HP:0009738Abnormality of the antihelix
HP:0010728Aplasia of the retina
http://purl.obolibrary.org/obo/UBERON_0035471posterior surface of kidney
HP:0010730Double eyebrow
HP:0010731Extension of eyebrows towards upper eyelid
HP:0430012Incomplete ossification of palatine bone
HP:0430011Defect of palpebral conjunctiva
HP:0009740Aplasia of the parotid gland
HP:0000197Abnormal parotid gland morphology
HP:0430013Absent palatine bone ossification
HP:0430003Abnormality of the palatine bone
HP:0430016Abnormality of tensor veli palatini muscle
HP:0009743Distichiasis
HP:0008496Multiple rows of eyelashes
HP:0430015Abnormal morphology of musculature of pharynx
HP:0009744Abnormal spinal dura mater morphology
HP:0430018Abnormality of nasal musculature
HP:0009741Nephrosclerosis
HP:0430017Abnormality of uvular muscle
HP:0430014Abnormality of musculature of soft palate
HP:0009742Stiff shoulders
http://purl.obolibrary.org/obo/GO_0048699generation of neurons
HP:0009747Lumbosacral hirsutism
HP:0010732Nodular changes affecting the eyelids
HP:0009748Large earlobe
HP:0010733Naevus flammeus of the eyelid
HP:0009745Spinalarachnoid cyst
HP:0100702Arachnoid cyst
HP:0100700Abnormal arachnoid mater morphology
HP:0009746Thick nasal septum
HP:0010735Polyostotic fibrous dysplasia
HP:0010736Monostotic fibrous dysplasia
HP:0010734Fibrous dysplasia of the bones
HP:0430010Microblepharia
HP:0010739Osteopoikilosis
http://purl.obolibrary.org/obo/GO_0046031ADP metabolic process
http://purl.obolibrary.org/obo/GO_0046034ATP metabolic process
HP:0010740Osteopathia striata
HP:0031367Metaphyseal striations
HP:0010741Pedal edema
HP:0010742Edema of the upper limbs
HP:0430023Abnormality of the maxillary sinus
HP:0430022Abnormality of the sphenoid sinus
HP:0009751Aplasia of the pectoralis major muscle
HP:0430025Bilateral facial palsy
HP:0430024Abnormality of external jugular vein
HP:3000042Abnormal jugular vein morphology
HP:3000037Abnormality of neck blood vessel
HP:0009754Fibrous syngnathia
HP:0430026Abnormality of the shape of the midface
HP:0009755Ankyloblepharon
HP:0430029Hyperplasia of the premaxilla
HP:0009752Cleft in skull base
HP:0430028Hyperplasia of the maxilla
HP:0009758Pyramidal skinfold extending from the base to the top of the nails
HP:0010743Short metatarsal
HP:0009759Neck pterygia
HP:0010744Absent metatarsal bone
HP:0009756Popliteal pterygium
HP:0009757Intercrural pterygium
HP:0010746Hypoplasia of the phalanges of the toes
http://purl.obolibrary.org/obo/CHEBI_58465dermatan sulfate polyanion
HP:0010747Medial flaring of the eyebrow
HP:0010748Ectopic lacrimal punctum
HP:0430021Abnormal common carotid artery morphology
HP:0010749Blepharochalasis
HP:0100540Palpebral edema
HP:0100539Periorbital edema
HP:0000282Facial edema
HP:0430020Abnormality of levator labii superioris alaeque nasi muscle
HP:0430019Abnormality of muscle of facial expression
http://purl.obolibrary.org/obo/CHEBI_136859pro-agent
http://purl.obolibrary.org/obo/CHEBI_1368493-oxo-Delta(4)-steroid group
http://purl.obolibrary.org/obo/GO_1903828negative regulation of cellular protein localization
http://purl.obolibrary.org/obo/GO_1903829positive regulation of cellular protein localization
http://purl.obolibrary.org/obo/GO_1903827regulation of cellular protein localization
http://purl.obolibrary.org/obo/GO_0046005positive regulation of circadian sleep/wake cycle, REM sleep
http://purl.obolibrary.org/obo/GO_0042320regulation of circadian sleep/wake cycle, REM sleep
http://purl.obolibrary.org/obo/GO_0045938positive regulation of circadian sleep/wake cycle, sleep
http://purl.obolibrary.org/obo/GO_0045187regulation of circadian sleep/wake cycle, sleep
http://purl.obolibrary.org/obo/GO_0042749regulation of circadian sleep/wake cycle
http://purl.obolibrary.org/obo/GO_0042753positive regulation of circadian rhythm
http://purl.obolibrary.org/obo/GO_0042752regulation of circadian rhythm
http://purl.obolibrary.org/obo/NBO_0000163REM frequency
http://purl.obolibrary.org/obo/NBO_0000162REM duration
http://purl.obolibrary.org/obo/NBO_0000160sleep duration
HP:0009709Increased CSF interferon alpha
http://purl.obolibrary.org/obo/GO_0022011myelination in peripheral nervous system
http://purl.obolibrary.org/obo/GO_0022010central nervous system myelination
http://purl.obolibrary.org/obo/GO_0042552myelination
HP:0009704Chronic CSF lymphocytosis
HP:0200149CSF lymphocytic pleiocytosis
HP:0012229CSF pleocytosis
HP:0009708Synostosis involving the 5th metacarpal
HP:0009705Synostosis involving the 2nd metacarpal
HP:0010010Abnormality of the 2nd metacarpal
HP:0009706Synostosis involving the 3rd metacarpal
HP:0010011Abnormality of the 3rd metacarpal
HP:00107081-5 finger syndactyly
HP:00107071-4 finger syndactyly
HP:0009710Chilblains
HP:0009711Retinal capillary hemangioma
http://purl.obolibrary.org/obo/GO_0010032meiotic chromosome condensation
http://purl.obolibrary.org/obo/GO_0070192chromosome organization involved in meiotic cell cycle
HP:0009715Papillary cystadenoma of the epididymis
HP:0009713Spinal hemangioblastoma
HP:0010302Spinal cord tumor
HP:0009718Subependymal giant-cell astrocytoma
HP:0009592Astrocytoma
HP:0100707Abnormality of the astrocytes
HP:0009716Subependymal nodules
HP:0009717Cortical tubers
HP:0009731Cerebral hamartoma
HP:00107061-3 finger syndactyly
HP:00107041-2 finger syndactyly
http://purl.obolibrary.org/obo/PR_Q12882dihydropyrimidine dehydrogenase [NADP(+)] (human)
http://purl.obolibrary.org/obo/PR_000006678dihydropyrimidine dehydrogenase [NADP(+)]
HP:0010672Abnormality of the third metatarsal bone
HP:0010675Abnormal foot bone ossification
HP:0010676Mechanical ileus
HP:0002595Ileus
HP:0009684Stippling of the epiphysis of the distal phalanx of the thumb
HP:0010255Stippling of the epiphyses of the distal phalanges of the hand
HP:0007023Antenatal intracerebral hemorrhage
HP:0001342Cerebral hemorrhage
HP:0009685Triangular epiphysis of the distal phalanx of the thumb
HP:0010256Triangular epiphyses of the distal phalanges of the hand
HP:0009682Pseudoepiphysis of the distal phalanx of the thumb
HP:0010253Pseudoepiphyses of the distal phalanges of the hand
HP:0007021Pain insensitivity
HP:0009683Small epiphysis of the distal phalanx of the thumb
HP:0010254Small epiphyses of the distal phalanges of the hand
HP:0007020Progressive spastic paraplegia
HP:0001258Spastic paraplegia
HP:0010550Paraplegia
HP:0007027Poorly formed metencephalon
HP:0007024Pseudobulbar paralysis
HP:0002015Dysphagia
HP:0025270Abnormality of esophagus physiology
HP:0001618Dysphonia
HP:0001260Dysarthria
HP:0002200Pseudobulbar signs
HP:0010677Enuresis nocturna
HP:0010678Enuresis diurna
HP:0000805Enuresis
HP:0007029Cerebral berry aneurysm
HP:0004944Dilatation of the cerebral artery
HP:0010680Elevated alkaline phosphatase of renal origin
HP:0010681Elevated intestinal alkaline phosphatase
HP:0010682Elevated placental alkaline phosphatase
HP:0010683Low tissue non-specific alkaline phosphatase
HP:0010684Low alkaline phosphatase of bone origin
HP:0010685Low alkaline phosphatase of renal origin
HP:0010686Low alkaline phosphatase of hepatic origin
HP:0010687Low intestinal alkaline phosphatase
HP:0007041Chronic lymphocytic meningitis
HP:0007034Generalized hyperreflexia
HP:0009697Contracture of the distal interphalangeal joint of the fingers
HP:0007036Hypoplasia of olfactory tract
HP:0007035Anterior encephalocele
HP:0010688Low placental alkaline phosphatase
http://purl.obolibrary.org/obo/UBERON_0035403hypophysial artery
HP:0007039Symmetric lesions of the basal ganglia
http://purl.obolibrary.org/obo/UBERON_0035401posterior wall of nasopharynx
HP:0010691Mirror image foot polydactyly
HP:00106922-5 finger syndactyly
HP:00107103-5 finger syndactyly
HP:00107054-5 finger syndactyly
HP:00107092-4 finger syndactyly
HP:00060973-4 finger syndactyly
HP:00012332-3 finger syndactyly
HP:0010694Lamellar pulverulent cataract
HP:0010695Sutural cataract
HP:0010697Anterior pyramidal cataract
HP:0001134Anterior polar cataract
HP:0010696Polar cataract
HP:0010698Nuclear pulverulent cataract
HP:0010690Mirror image hand polydactyly
HP:0010689Mirror image polydactyly
HP:0007045Midline brain calcifications
HP:0007048Large basal ganglia
HP:0007047Atrophy of the dentate nucleus
HP:0100321Abnormality of the dentate nucleus
HP:0010699Triangular nuclear cataract
HP:0007063Aplasia of the inferior half of the cerebellar vermis
HP:0007054Hyperreflexia proximally
HP:0007058Generalized cerebral atrophy/hypoplasia
HP:0007057Poor hand-eye coordination
HP:0002370Poor coordination
HP:0002311Incoordination
HP:0032001Pink urine
HP:0032000Pleural rub
HP:0032005Hemidystonia
HP:0032004Pruritus vulvae
HP:0010630Abnormality of metatarsal epiphysis
HP:0032003Green urine
HP:0010631Abnormality of the epiphyses of the feet
HP:0032002Orange urine
HP:0010632Total anosmia
HP:0009640Synostosis of the proximal phalanx of the thumb with the 1st metacarpal
HP:0009703Synostosis involving the 1st metacarpal
HP:0010009Abnormality of the 1st metacarpal
HP:0006152Proximal symphalangism of hands
HP:0100264Proximal symphalangism
HP:0009644Curved distal phalanx of the thumb
HP:0009645Osteolytic defect of the distal phalanx of the thumb
HP:0009642Broad distal phalanx of the thumb
HP:0011304Broad thumb
HP:0009643Bullet-shaped distal phalanx of the thumb
HP:0009648Triangular shaped distal phalanx of the thumb
HP:0010633Partial anosmia
HP:0000458Anosmia
HP:0032009Infantile constant exotropia
HP:0009649Aplasia of the distal phalanx of the thumb
HP:0010634Total hyposmia
HP:0032008Pulmonary fat embolism
HP:0002204Pulmonary embolism
HP:0009646Patchy sclerosis of the distal phalanx of the thumb
HP:0100912Sclerosis of the distal phalanx of the thumb
HP:0010635Partial hyposmia
HP:0004409Hyposmia
HP:0004408Abnormality of the sense of smell
HP:0032007Maceration
HP:0032006Lip tremor
HP:0002346Head tremor
HP:0010636Schizencephaly
HP:0010637Conjunctival amyloidosis
HP:0010638Elevated alkaline phosphatase of hepatic origin
http://purl.obolibrary.org/obo/GO_0097529myeloid leukocyte migration
HP:0010639Elevated alkaline phosphatase of bone origin
HP:0010679Elevated tissue non-specific alkaline phosphatase
http://purl.obolibrary.org/obo/PR_O89103complement component C1q receptor (mouse)
HP:0010643Midnasal atresia
HP:0009652Bullet-shaped thumb phalanx
HP:0009650Short distal phalanx of the thumb
HP:0009641Aplasia/Hypoplasia of the distal phalanx of the thumb
HP:0009655Patchy sclerosis of thumb phalanx
HP:0009656Symphalangism of the thumb
HP:0001204Distal symphalangism of hands
HP:0100263Distal symphalangism
HP:0009635Synostosis of thumb phalanx
HP:0009653Curved thumb phalanx
HP:0004095Curved fingers
HP:0009654Osteolytic defect of thumb phalanx
HP:0009659Partial absence of thumb
HP:0010644Midnasal stenosis
HP:0010641Abnormality of the midnasal cavity
HP:0010640Abnormality of the nasal cavity
http://purl.obolibrary.org/obo/CHEBI_584025-oxo-L-prolinate
http://purl.obolibrary.org/obo/CHEBI_59814L-alpha-amino acid anion
HP:0010645Aplasia of the distal phalanges of the toes
HP:0010745Aplasia of the phalanges of the toes
HP:0009657Triangular shaped thumb phalanx
HP:0010646Cervical spine instability
HP:0010648Dermal translucency
HP:0010649Flat nasal alae
http://purl.obolibrary.org/obo/UBERON_0035431mediastinal pleura
HP:0010650Hypoplasia of the premaxilla
HP:0010654Aplasia of the falx cerebri
HP:0020006Ciliary body coloboma
HP:0000589Coloboma
HP:0009670Ivory epiphysis of the proximal phalanx of the thumb
HP:0010274Ivory epiphyses of the proximal phalanges of the hand
HP:0010263Ivory epiphyses of the middle phalanges of the hand
http://purl.obolibrary.org/obo/CHEBI_546807beta-D-Galp-(1->3)-D-GalpNAc
HP:0007001Loss of Purkinje cells in the cerebellar vermis
HP:0007000Morning myoclonic jerks
HP:0009660Short phalanx of the thumb
HP:0009658Aplasia/Hypoplasia of the phalanges of the thumb
http://purl.obolibrary.org/obo/CHEBI_584194-hydroxy-L-proline zwitterion
http://purl.obolibrary.org/obo/CHEBI_631374-hydroxyproline zwitterion
HP:0009666Cone-shaped epiphysis of the proximal phalanx of the thumb
HP:0010259Cone-shaped epiphyses of the middle phalanges of the hand
HP:0010270Cone-shaped epiphyses of the proximal phalanges of the hand
HP:0009667Enlarged epiphysis of the proximal phalanx of the thumb
HP:0010271Enlarged epiphyses of the proximal phalanges of the hand
HP:0010260Enlarged epiphyses of the middle phalanges of the hand
HP:0009664Absent epiphysis of the proximal phalanx of the thumb
HP:0010268Absent epiphyses of the proximal phalanges of the hand
HP:0010257Absent epiphyses of the middle phalanges of the hand
HP:0007002Motor axonal neuropathy
HP:0009665Bracket epiphysis of the proximal phalanx of the thumb
HP:0010269Bracket epiphyses of the proximal phalanges of the hand
HP:0010258Bracket epiphyses of the middle phalanges of the hand
HP:0007009Central nervous system degeneration
HP:0007007Cavitation of the basal ganglia
HP:0010657Patchy reduction of bone mineral density
HP:0009668Fragmentation of the epiphysis of the proximal phalanx of the thumb
HP:0010261Fragmentation of the epiphyses of the middle phalanges of the hand
HP:0009669Irregular epiphysis of the proximal phalanx of the thumb
HP:0010273Irregular epiphyses of the proximal phalanges of the hand
HP:0010262Irregular epiphyses of the middle phalanges of the hand
HP:0007006Dorsal column degeneration
HP:0011397Abnormality of the dorsal column of the spinal cord
HP:0010659Patchy variation in bone mineral density
http://purl.obolibrary.org/obo/UBERON_0035435right suprarenal vein
http://purl.obolibrary.org/obo/GO_1903770negative regulation of beta-galactosidase activity
HP:0010661Absence of the third cerebral ventricle
http://purl.obolibrary.org/obo/CHEBI_22478amino alcohol
http://purl.obolibrary.org/obo/GO_1903771positive regulation of beta-galactosidase activity
HP:0010664Fusion of the left and right thalami
HP:0010663Abnormality of thalamus morphology
HP:0010665Bilateral coxa valga
HP:0002673Coxa valga
HP:0009680Irregular epiphysis of the distal phalanx of the thumb
HP:0010251Irregular epiphyses of the distal phalanges of the hand
HP:0009691Irregular thumb epiphysis
HP:0010233Irregular epiphyses of the phalanges of the hand
HP:0003842Irregular epiphyses of the upper limbs
HP:0009681Ivory epiphysis of the distal phalanx of the thumb
HP:0010252Ivory epiphyses of the distal phalanges of the hand
HP:0009692Ivory epiphysis of the thumb
HP:0010234Ivory epiphyses of the phalanges of the hand
HP:0010583Ivory epiphyses
HP:0100922Sclerosis of thumb phalanx
HP:0009673Stippling of the epiphysis of the proximal phalanx of the thumb
HP:0010266Stippling of the epiphyses of the middle phalanges of the hand
HP:0010277Stippling of the epiphyses of the proximal phalanges of the hand
HP:0009695Stippling of thumb epiphysis
HP:0010237Epiphyseal stippling of finger phalanges
HP:0010660Abnormal hand bone ossification
HP:0009674Triangular epiphysis of the proximal phalanx of the thumb
HP:0010267Triangular epiphyses of the middle phalanges of the hand
HP:0009696Triangular epiphyses of the thumb
HP:0010278Triangular epiphyses of the proximal phalanges of the hand
HP:0010238Triangular epiphyses of the phalanges of the hand
HP:0010587Triangular epiphyses
HP:0007011Fourth cranial nerve palsy
HP:0009671Pseudoepiphysis of the proximal phalanx of the thumb
HP:0010275Pseudoepiphyses of the proximal phalanges of the hand
HP:0010264Pseudoepiphyses of the middle phalanges of the hand
HP:0009693Pseudoepiphysis of the thumb
HP:0010235Pseudoepiphyses of the phalanges of the hand
HP:0004288Pseudoepiphyses of hand bones
HP:0010584Pseudoepiphyses
HP:0007010Poor fine motor coordination
HP:0009672Small epiphysis of the proximal phalanx of the thumb
HP:0010265Small epiphyses of the middle phalanges of the hand
HP:0010276Small epiphyses of the proximal phalanges of the hand
HP:0009663Abnormality of the epiphysis of the proximal phalanx of the thumb
HP:0010244Abnormality of the epiphyses of the middle phalanges of the hand
HP:0010245Abnormality of the epiphyses of the proximal phalanges of the hand
HP:0009618Abnormality of the proximal phalanx of the thumb
HP:0009694Small thumb epiphysis
HP:0010236Small epiphyses of the phalanges of the hand
HP:0003844Small epiphyses of the upper limbs
HP:0009677Cone-shaped epiphysis of the distal phalanx of the thumb
HP:0010248Cone-shaped epiphyses of the distal phalanges of the hand
HP:0009688Cone-shaped epiphysis of the thumb
HP:0010230Cone-shaped epiphyses of the phalanges of the hand
HP:0007016Corticospinal tract hypoplasia
HP:0009678Enlarged epiphysis of the distal phalanx of the thumb
HP:0009689Enlarged thumb epiphysis
HP:0010249Enlarged epiphyses of the distal phalanges of the hand
HP:0010231Enlarged epiphyses of the phalanges of the hand
HP:0007015Poor gross motor coordination
HP:0002275Poor motor coordination
HP:0009675Absent epiphysis of the distal phalanx of the thumb
HP:0010246Absent epiphyses of the distal phalanges of the hand
HP:0009676Bracket epiphysis of the distal phalanx of the thumb
HP:0010247Bracket epiphyses of the distal phalanges of the hand
HP:0009687Bracket epiphyses of the thumb
HP:0010229Bracket epiphyses of the phalanges of the hand
HP:0010578Bracket epiphyses
HP:0010666Hypoplasia of the anterior nasal spine
HP:0010667Aplasia of the maxilla
HP:0009679Fragmentation of the epiphysis of the distal phalanx of the thumb
HP:0010250Fragmentation of the epiphyses of the distal phalanges of the hand
HP:0009662Abnormality of the epiphysis of the distal phalanx of the thumb
HP:0010243Abnormality of the epiphyses of the distal phalanx of finger
HP:0009690Fragmentation of thumb epiphysis
HP:0010232Fragmentation of the epiphyses of the phalanges of the hand
HP:0003841Fragmented epiphyses of the upper limbs
HP:0004277Fractured hand bones
HP:0007018Attention deficit hyperactivity disorder
HP:0000752Hyperactivity
HP:0000736Short attention span
HP:0007017Progressive forgetfulness
HP:0002354Memory impairment
HP:0032045Hypoplastic carotid canal
HP:0032044Decreased vigilance
HP:0032043Odynophagia
HP:0032048Focal cortical dysplasia type Ia
HP:0032041Vocal cord polyp
HP:0008777Abnormal vocal cord morphology
HP:0020063Increased hemoglobin concentration
HP:0020062Decreased hemoglobin concentration
HP:0020061Abnormal hemoglobin concentration
HP:0020060Decreased red blood cell count
HP:0032034Upper eyelid laxity
HP:0032033Vertical eyelid laxity
HP:0032032Horizontal eyelid laxity
HP:0032031Medial canthal tendon laxity
HP:0032037Mildly reduced visual acuity
HP:0032035Lower eyelid laxity
HP:0032030Lateral canthal tendon laxity
HP:0020059Increased red blood cell count
HP:0020058Abnormal red blood cell count
HP:0020050Anti-granulocyte-macrophage colony stimulating factor antibody positivity
HP:0032023Eosinophilic gallbladder infiltration
HP:0032022Eosinophilic dermal infiltration
HP:0032021Eosinophilic liver infiltration
HP:0032020Eosinophilic bladder infiltration
HP:0032027Retinal dots
HP:0032026Anetoderma
HP:0032025Reduced serum alpha-1-antitrypsin
HP:0032024Ileal ulcer
HP:0020043Vertical incomitant strabismus
HP:0020044Horizontal incomitant strabismus
HP:0020041Double elevator palsy
HP:0020042Double depressor palsy
HP:0020048Reduced bone-marrow pro-B cell count
HP:0020046Accommodative esotropia
HP:0000565Esotropia
HP:0020045Esodeviation
HP:0032029Floppy eyelid
HP:0031880Eyelid laxity
HP:0032028Macular dots
HP:0032011Heterophoria
HP:0032010Basic constant exotropia
HP:0031713Constant exotropia
HP:0000577Exotropia
HP:0020049Exodeviation
HP:0032012Heterotropia
HP:0032015Dysmetric horizontal saccades
HP:0032014Dysmetric vertical saccades
HP:0000641Dysmetric saccades
HP:0032013Hypermetric horizontal saccades
HP:0020038Vertebrobasilar dolichoectasia
HP:0020036Upper limb dysmetria
HP:0020037Astasia
HP:0020034Diffuse
HP:0020035Lower limb dysmetria
HP:0002406Limb dysmetria
HP:0002070Limb ataxia
HP:0001310Dysmetria
HP:0032019Muscle eosinophilia
HP:0032018Multiple mononeuropathy
HP:0032017Sputum eosinophilia
HP:0032089Aortic medial fibrosis
HP:0032088Aortic smooth muscle cell disorganization
HP:0032087Aortic laminar medial collapse
HP:0032086Aortic smooth muscle cell nuclei loss
HP:0032081Intralamellar mucoid extracellular matrix accumulation
HP:0007074Thick corpus callosum
HP:0032085Aortic elastic fiber disorganization
HP:0032084Aortic elastic fiber thinning
HP:0032083Aortic elastic fiber fragmentation
HP:0032082Translamellar mucoid extracellular matrix accumulation
HP:0200146Mucoid extracellular matrix accumulation
HP:0012180Cystic medial necrosis
HP:0007067Distal peripheral sensory neuropathy
HP:0007066Proximal limb muscle stiffness
HP:0007065Disorganization of the anterior cerebellar vermis
HP:0007064Progressive language deterioration
HP:0007069Profound static encephalopathy
HP:0007030Nonprogressive encephalopathy
HP:0007068Inferior vermis hypoplasia
HP:0001320Cerebellar vermis hypoplasia
HP:0006817Aplasia/Hypoplasia of the cerebellar vermis
HP:0002334Abnormality of the cerebellar vermis
HP:0032078Angel-shaped phalanx
HP:0032077Male urethral meatus stenosis
HP:0032075Splenopancreatic fusion
HP:0032079Medial degeneration
HP:0007081Late-onset muscular dystrophy
HP:0003560Muscular dystrophy
HP:0032070Leptomeningeal enhancement
HP:0032073Aplasia of the fallopian tube
HP:0008655Aplasia/Hypoplasia of the fallopian tube
HP:0011027Abnormal fallopian tube morphology
HP:0007083Hyperactive patellar reflex
HP:0002395Lower limb hyperreflexia
HP:0032072Popliteal synovial cyst
HP:0007082Dilated third ventricle
HP:0032071Pulmonary eosinophilic infiltration
HP:0020098Herpes encephalitis
HP:0020099Severe norovirus infection
HP:0020097Infection due to encapsulated bacteria
HP:0020090Post-vaccination polio
HP:0020091Post-vaccination rotavirus infection
HP:0020095Prolonged need of intravenous antibiotic therapy
HP:0020093Recurrent deep organ abscess formation
HP:0032067Elevated serum bicarbonate concentration
HP:0032066Decreased serum bicarbonate concentration
HP:0032065Abnormal serum bicarbonate concentration
HP:0032069Anti-thyroglobulin antibody positivity
HP:0032068Increased urinary mucus
HP:0007096Hypoplasia of the optic tract
HP:0032063Ankle joint effusion
HP:0007095Frontoparietal polymicrogyria
HP:0032062Mallory-Weiss tear
HP:0032061Hypereosinophilia
HP:0032060Epithelioid hemangioma
HP:0020087BCGosis
HP:0020088Post-vaccination measles
HP:0007086Social and occupational deterioration
HP:0020086BCGitis
HP:0020089Post-vaccination rubella
HP:0020085Infection following live vaccination
HP:0020083Furuncle
HP:0020084Carbuncle
HP:0025084Folliculitis
http://purl.obolibrary.org/obo/CHEBI_5520gonadorelin
HP:0020081Pappenheimer bodies
HP:0020082Heinz bodies
HP:0032056Focal cortical dysplasia type IIIb
HP:0032055Focal cortical dysplasia type IIIa
HP:0032053Focal cortical dysplasia type IIb
HP:0032059Mild malformation of cortical development
HP:0032058Focal cortical dysplasia type IIId
HP:0032057Focal cortical dysplasia type IIIc
HP:0032054Focal cortical dysplasia type III
HP:0032052Focal cortical dysplasia type IIa
HP:0032051Focal cortical dysplasia type II
HP:0032050Focal cortical dysplasia type Ic
HP:0032049Focal cortical dysplasia type Ib
HP:0032047Focal cortical dysplasia type I
HP:0032046Focal cortical dysplasia
HP:0002539Cortical dysplasia
HP:0020076Wrist ganglion
HP:0020077Carnitinuria
HP:0007099Arnold-Chiari type I malformation
HP:0002308Arnold-Chiari malformation
HP:0007098Paroxysmal choreoathetosis
HP:0020075Leucine crystalluria
HP:0007097Cranial nerve motor loss
HP:0020078Alaninuria
HP:0020079Beta-alaninuria
HP:0020072Persistent EBV viremia
http://purl.obolibrary.org/obo/GO_0048520positive regulation of behavior
http://purl.obolibrary.org/obo/GO_0048515spermatid differentiation
http://www.informatics.jax.org/marker/MGI:87991Alb (mouse)
http://www.informatics.jax.org/marker/MGI:87983Alpl (mouse)
http://purl.obolibrary.org/obo/NBO_0000034sexual activity
http://purl.obolibrary.org/obo/NBO_0000010reproductive behavior
http://purl.obolibrary.org/obo/NBO_0000032paralysis
http://purl.obolibrary.org/obo/NBO_0000030hyperactivity
http://purl.obolibrary.org/obo/NBO_0000024sleeping behavior
http://purl.obolibrary.org/obo/GO_0030431sleep
http://purl.obolibrary.org/obo/NBO_0000008rhythmic behavior
http://purl.obolibrary.org/obo/CHEBI_71300EC 2.* (transferase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_134394primary allylic alcohol
http://purl.obolibrary.org/obo/CHEBI_15734primary alcohol
http://purl.obolibrary.org/obo/CHEBI_489994-hydroxyphenylacetate
http://purl.obolibrary.org/obo/GO_1901343negative regulation of vasculature development
http://purl.obolibrary.org/obo/UBERON_0035371retroperitoneal lymph node
http://purl.obolibrary.org/obo/GO_1901342regulation of vasculature development
HP:0010830Impaired tactile sensation
HP:0010839Increased urinary copper concentration
HP:0045036Abnormal urinary copper concentration
HP:0025640Abnormal urinary mineral level
http://purl.obolibrary.org/obo/CHEBI_134361allylic alcohol
http://purl.obolibrary.org/obo/CHEBI_78840olefinic compound
HP:0009840Patchy sclerosis of distal phalanx of finger
HP:0100915Sclerosis of distal finger phalanx
HP:0009846Curved middle phalanges of the hand
HP:0009847Osteolytic defects of the middle phalanges of the hand
http://purl.obolibrary.org/obo/CHEBI_58314(2R)-2-hydroxy monocarboxylic acid anion
HP:0009844Broad middle phalanx of finger
HP:0010833Spontaneous pain sensation
http://purl.obolibrary.org/obo/NBO_0000096agoraphobia behavior
HP:0009845Bullet-shaped middle phalanges of the hand
HP:0010835Dissociated sensory loss
http://purl.obolibrary.org/obo/NBO_0000094fear behavior towards situation/environment
http://purl.obolibrary.org/obo/NBO_0000100exploration behavior
http://purl.obolibrary.org/obo/NBO_0000097response to novel environment
HP:0009848Patchy sclerosis of middle phalanx of finger
HP:0100916Sclerosis of middle finger phalanx
HP:0010837Decreased serum ceruloplasmin
http://purl.obolibrary.org/obo/NBO_0000092anxiety-related behavior
HP:0009849Symphalangism of middle phalanx of finger
HP:0010838High nonceruloplasmin-bound serum copper
http://purl.obolibrary.org/obo/NBO_0000091fear-related behavior
http://purl.obolibrary.org/obo/NBO_0000018fear/anxiety related behavior
http://purl.obolibrary.org/obo/GO_0012505endomembrane system
http://purl.obolibrary.org/obo/GO_0048598embryonic morphogenesis
HP:0010841Multifocal epileptiform discharges
http://purl.obolibrary.org/obo/GO_1903999negative regulation of eating behavior
http://purl.obolibrary.org/obo/GO_1903998regulation of eating behavior
http://purl.obolibrary.org/obo/GO_2000252negative regulation of feeding behavior
http://purl.obolibrary.org/obo/GO_0048521negative regulation of behavior
http://purl.obolibrary.org/obo/GO_0060259regulation of feeding behavior
http://purl.obolibrary.org/obo/GO_0050795regulation of behavior
http://purl.obolibrary.org/obo/CHEBI_507393taurine zwitterion
http://purl.obolibrary.org/obo/GO_0012506vesicle membrane
HP:0009853Bullet-shaped proximal phalanges of the hand
HP:0009854Curved proximal phalanges of the hand
HP:0009851Aplasia/Hypoplasia of the proximal phalanges of the hand
HP:0009852Broad proximal phalanges of the hand
HP:0009857Symphalangism affecting the proximal phalanges of the hand
HP:0009858Triangular shaped proximal phalanges of the hand
HP:0010843EEG with focal slow activity
http://purl.obolibrary.org/obo/NBO_0000086novelty response behavior
HP:0009855Osteolytic defects of the proximal phalanges of the hand
HP:0010844EEG with multifocal slow activity
http://purl.obolibrary.org/obo/NBO_0000085depression behavior
HP:0009856Patchy sclerosis of proximal phalanx of finger
HP:0100917Sclerosis of proximal finger phalanx
HP:0010845EEG with generalized slow activity
HP:0011203EEG with abnormally slow frequencies
HP:0010846EEG with persistent abnormal rhythmic activity
HP:0011176EEG with constitutional variants
HP:0010847EEG with spike-wave complexes (<2.5 Hz)
HP:0010848EEG with spike-wave complexes (2.5-3.5 Hz)
HP:0010849EEG with spike-wave complexes (>3.5 Hz)
HP:0010850EEG with spike-wave complexes
HP:0010851EEG with burst suppression
HP:0010852EEG with photoparoxysmal response
HP:0007201Cerebral artery atherosclerosis
HP:0007200Episodic hypersomnia
HP:0100786Hypersomnia
HP:0007207Photosensitive tonic-clonic seizure
HP:0010853EEG with periodic lateralized epileptiform discharges
HP:0011186Focal epileptiform discharges with limited propagation to contralateral hemisphere
HP:0011185EEG with focal epileptiform discharges
HP:0007206Hemimegalencephaly
HP:0001355Megalencephaly
HP:0010854EEG with generalized low amplitude activity
HP:0010855EEG with localized low amplitude activity
HP:0011201EEG with changes in voltage
HP:0010856EEG with periodic complexes
HP:0010857EEG with periodic abnormalities
HP:0011200EEG with generalized polymorphic epileptiform discharges
HP:0011198EEG with generalized epileptiform discharges
HP:0010858EEG with hyperventilation-induced epileptiform discharges
HP:0011182Interictal epileptiform activity
HP:0025373Interictal EEG abnormality
HP:0002353EEG abnormality
HP:0010859Frank breech presentation
HP:0007209Facial paralysis
HP:0007208Irregular myelin loops
HP:0010860Complete breech presentation
HP:0010861Incomplete breech presentation
HP:0001623Breech presentation
HP:0010862Delayed fine motor development
HP:0010863Receptive language delay
HP:0000750Delayed speech and language development
http://purl.obolibrary.org/obo/GO_1901318negative regulation of flagellated sperm motility
http://purl.obolibrary.org/obo/GO_2000242negative regulation of reproductive process
http://purl.obolibrary.org/obo/GO_1902020negative regulation of cilium-dependent cell motility
http://purl.obolibrary.org/obo/GO_1901317regulation of flagellated sperm motility
http://purl.obolibrary.org/obo/GO_1902019regulation of cilium-dependent cell motility
http://purl.obolibrary.org/obo/GO_2000241regulation of reproductive process
HP:0007210Lower limb amyotrophy
HP:0009875Triangular shaped distal phalanges of the hand
HP:0009879Simplified gyral pattern
HP:0010864Intellectual disability, severe
HP:0001249Intellectual disability
HP:0010865Oppositional defiant disorder
HP:0010866Abdominal wall defect
HP:0009878Cerebellar ataxia associated with quadrupedal gait
HP:0007215Periodic hyperkalemic paralysis
HP:0003768Periodic paralysis
HP:0010868Ocular dyssynergia
HP:0010869Asynergia
HP:0010867Dyssynergia
http://purl.obolibrary.org/obo/UBERON_0011380female external urethral sphincter
http://purl.obolibrary.org/obo/GO_0061512protein localization to cilium
http://purl.obolibrary.org/obo/GO_0033365protein localization to organelle
http://purl.obolibrary.org/obo/NBO_0000054suckling behavior
HP:0009800Maternal diabetes
http://purl.obolibrary.org/obo/UBERON_0011386facial modiolus
HP:0009806Nephrogenic diabetes insipidus
HP:0000873Diabetes insipidus
HP:0009804Reduced number of teeth
HP:0006483Abnormal number of teeth
HP:0009805Low-output congestive heart failure
HP:0001635Congestive heart failure
http://purl.obolibrary.org/obo/UBERON_0011391perineal nerve
http://purl.obolibrary.org/obo/UBERON_0011390pudendal nerve
HP:0009819Lower limb phocomelia
HP:0010806U-Shaped upper lip vermilion
HP:0010807Open bite
HP:0010808Protruding tongue
HP:0010809Broad uvula
HP:0009813Upper limb phocomelia
http://purl.obolibrary.org/obo/NBO_0000043bonding behavior
HP:0009814Upper limb peromelia
HP:0010800Absent cupid's bow
HP:0009812Amelia involving the upper limbs
HP:0010801Underdeveloped nasolabial fold
HP:0009817Aplasia involving bones of the lower limbs
HP:0010802Perioral hyperpigmentation
HP:0009818Amelia involving the lower limbs
HP:0010803Everted upper lip vermilion
HP:0012472Eclabion
HP:0010804Tented upper lip vermilion
HP:0011339Abnormality of upper lip vermillion
HP:0010805Upturned corners of mouth
http://purl.obolibrary.org/obo/GO_1903941negative regulation of respiratory gaseous exchange
http://purl.obolibrary.org/obo/GO_1903942positive regulation of respiratory gaseous exchange
HP:0010817Linear nevus sebaceous
HP:0010818Generalized tonic seizure
HP:0009820Lower limb peromelia
http://purl.obolibrary.org/obo/NBO_0000079feeding behavior
http://purl.obolibrary.org/obo/NBO_0001845consumption behavior
HP:0010810Long uvula
http://purl.obolibrary.org/obo/NBO_0000075playing behavior
HP:0009822Aplasia involving forearm bones
HP:0003953Absent forearm bone
HP:0010811Narrow uvula
HP:0010812Short uvula
HP:0010293Aplasia/Hypoplasia of the uvula
HP:0000172Abnormality of the uvula
HP:0100736Abnormal soft palate morphology
HP:0009828Peromelia
HP:0010813Abnormal number of hair whorls
HP:0010814Abnormal position of hair whorl
HP:0010721Abnormal hair whorl
HP:0010815Nevus sebaceous
http://purl.obolibrary.org/obo/CHEBI_58375trans-4-hydroxy-L-proline zwitterion
http://purl.obolibrary.org/obo/CHEBI_59869L-alpha-amino acid zwitterion
http://purl.obolibrary.org/obo/CHEBI_78608alpha-amino acid zwitterion
http://purl.obolibrary.org/obo/UBERON_0035383lateral wall of nasopharynx
HP:0010828Hemifacial spasm
HP:0003739Myoclonic spasms
HP:0010829Impaired temperature sensation
HP:0009831Mononeuropathy
http://purl.obolibrary.org/obo/NBO_0000064regulation of drinking behavior
HP:0010822Scintillating scotoma
http://purl.obolibrary.org/obo/NBO_0000063regulation of eating behavior
http://purl.obolibrary.org/obo/CHEBI_58389trimethylammonium
HP:0010823Ridged cranial sutures
HP:0009839Osteolytic defects of the distal phalanges of the hand
HP:0010824Abnormal fifth cranial nerve morphology
HP:0010825Abnormality of the eleventh cranial nerve
HP:0009837Bullet-shaped distal phalanges of the hand
HP:0010826Abnormality of the twelfth cranial nerve
HP:3000075Abnormal lingual nerve morphology
HP:0009838Curved distal phalanges of the hand
HP:0010790Hyoplasia of the Leydig cells
HP:0010468Aplasia/Hypoplasia of the testes
HP:0010791Hyperplasia of the Leydig cells
HP:0000053Macroorchidism
HP:0045058Abnormality of the testis size
HP:0010793Bifid nail
HP:0010794Impaired visuospatial constructive cognition
HP:0001328Specific learning disability
HP:0010795Cerebellar glioma
HP:0010796Brainstem glioma
HP:0009733Glioma
HP:0100705Abnormality of the glial cells
HP:0010797Hemangioblastoma
HP:0100835Benign neoplasm of the central nervous system
HP:0020106Severe giardiasis
HP:0020107Unusual helminthic infection
HP:0020105Severe toxoplasmosis
HP:0020104Unusual protozoan infection
http://purl.obolibrary.org/obo/CHEBI_24963ketoaldonic acid
http://purl.obolibrary.org/obo/CHEBI_24961ketoaldonate
HP:0007141Sensorimotor neuropathy
HP:0020102Pneumocystis jirovecii pneumonia
http://purl.obolibrary.org/obo/GO_0097447dendritic tree
HP:0020103Invasive pulmonary aspergillosis
HP:0007146Bilateral basal ganglia lesions
HP:0020101Invasive fungal infection
HP:0010798Lip freckle
http://purl.obolibrary.org/obo/UBERON_0011344lateral surface of mandible
http://purl.obolibrary.org/obo/UBERON_0011342surface of mandible
http://purl.obolibrary.org/obo/UBERON_0011349pterygomandibular raphe
http://purl.obolibrary.org/obo/CHEBI_48927N-acyl-L-alpha-amino acid
http://purl.obolibrary.org/obo/CHEBI_21644N-acyl-L-amino acid
http://purl.obolibrary.org/obo/CHEBI_51569N-acyl-amino acid
HP:0007162Diffuse demyelination of the cerebral white matter
HP:0007153Progressive extrapyramidal movement disorder
HP:0007159Fluctuations in consciousness
HP:0007158Progressive extrapyramidal muscular rigidity
HP:0007076Extrapyramidal muscular rigidity
HP:0002063Rigidity
HP:0007156Asymmetric limb muscle stiffness
HP:0003552Muscle stiffness
http://purl.obolibrary.org/obo/CHEBI_48937phytane
http://purl.obolibrary.org/obo/CHEBI_35190diterpene
http://purl.obolibrary.org/obo/CHEBI_35186terpene
http://purl.obolibrary.org/obo/UBERON_0011363cranial lymph vasculature
http://purl.obolibrary.org/obo/UBERON_0004536lymph vasculature
http://purl.obolibrary.org/obo/UBERON_0011362cranial blood vasculature
http://purl.obolibrary.org/obo/CHEBI_22323alkyl group
http://purl.obolibrary.org/obo/CHEBI_33248hydrocarbyl group
HP:0007166Paroxysmal dyskinesia
HP:0007164Slowed slurred speech
HP:0001350Slurred speech
http://purl.obolibrary.org/obo/CHEBI_36961chalcocarbonic acid
http://purl.obolibrary.org/obo/UBERON_0011366cleidobrachialis muscle
http://purl.obolibrary.org/obo/UBERON_0011364cleidocephalicus muscle
http://purl.obolibrary.org/obo/UBERON_0011368brachiocephalic muscle
http://purl.obolibrary.org/obo/UBERON_0011370transverse process of atlas
http://purl.obolibrary.org/obo/CHEBI_48944isobutyrate
http://purl.obolibrary.org/obo/CHEBI_78115fatty acid anion 4:0
http://purl.obolibrary.org/obo/UBERON_0011371sternocephalicus muscle
HP:0007183Focal T2 hyperintense basal ganglia lesion
HP:0012751Abnormal basal ganglia MRI signal intensity
HP:0007182Peripheral hypomyelination
HP:0007179Absent smooth pursuit
http://purl.obolibrary.org/obo/UBERON_0011375skin of prepuce of clitoris
http://purl.obolibrary.org/obo/UBERON_0005298skin of clitoris
http://purl.obolibrary.org/obo/UBERON_0011379male external urethral sphincter
http://purl.obolibrary.org/obo/UBERON_0004919external urethral sphincter
http://purl.obolibrary.org/obo/UBERON_0004917urethral sphincter
HP:0032122Very low visual acuity
HP:0032121Froment sign
HP:0032120Abnormal peripheral nervous system physiology
HP:0032126Decreased proportion of unswitched memory B cells
HP:0010750Dermatochalasis
HP:0032125Increased proportion of unswitched memory B cells
HP:0010751Dimple chin
HP:0000306Abnormality of the chin
HP:0032124Abnormal proportion of unswitched memory B cells
HP:0010752Cleft mandible
HP:0010753Midline defect of mandible
HP:0020148Increased circulating mead acid level
HP:0020149Elevated circulating succinate
http://purl.obolibrary.org/obo/UBERON_0001985corneal endothelium
http://purl.obolibrary.org/obo/UBERON_0001988feces
http://purl.obolibrary.org/obo/UBERON_0001987placenta
HP:0009761Anterior clefting of vertebral bodies
HP:0020142Blood pressure substantially higher in arms than legs
HP:0007100Progressive ventriculomegaly
HP:0020143Tracheal duplication cyst
HP:0009762Facial wrinkling
HP:0020140History of recent tick bite
HP:0009760Antecubital pterygium
HP:0001059Pterygium
HP:0020141Blood pressure substantially higher in legs than arms
http://purl.obolibrary.org/obo/UBERON_0011306deep part of temporalis
HP:0020146Calcium carbonate crystalluria
HP:0009765Low hanging columella
HP:0007104Prolonged somatosensory evoked potentials
HP:00201472-Methylbutyryl glycinuria
HP:0020144Calcium phosphate crystalluria
HP:0020145Calcium oxalate crystalluria
HP:0009769Bullet-shaped phalanges of the hand
HP:0007107Segmental peripheral demyelination
HP:0010755Asymmetry of the maxilla
HP:0032129Decreased proportion of plasmablasts
HP:0032128Increased proportion of plasmablasts
HP:0007105Infantile encephalopathy
HP:0010757Aplasia of the premaxilla
HP:0010756Aplasia/Hypoplasia of the premaxilla
HP:0032127Abnormal plasmablast proportion
HP:0010759Prominence of the premaxilla
HP:0007109Periventricular cysts
HP:0032111Abnormal Vistech contrast sensitivity test
HP:0032110Severely reduced contrast sensitivity
HP:0010761Broad columella
HP:0010762Chordoma
HP:0032113Semidominant mode of inheritance
HP:0010763Low insertion of columella
HP:0032112Abnormal Pelli Robson contrast sensitivity chart test
http://purl.obolibrary.org/obo/CHEBI_22331alkylamines
http://purl.obolibrary.org/obo/CHEBI_32952amine
HP:0020139History of recent insect bite
HP:0020137Anticardiolipin IgM antibody positivity
HP:0020138History of recent animal bite
http://purl.obolibrary.org/obo/UBERON_0001994hyaline cartilage tissue
http://purl.obolibrary.org/obo/CHEBI_24996lactate
HP:0009780Iliac horns
HP:0003796Irregular iliac crest
http://purl.obolibrary.org/obo/CHEBI_24995lactam
http://purl.obolibrary.org/obo/CHEBI_23443cyclic amide
http://purl.obolibrary.org/obo/UBERON_0001996elastic cartilage tissue
http://purl.obolibrary.org/obo/UBERON_0011589non-mineralized cartilage tissue
HP:0007111Chronic hepatic encephalopathy
HP:0002480Hepatic encephalopathy
HP:0009772Patchy sclerosis of finger phalanx
HP:0100899Sclerosis of finger phalanx
HP:0004286Patchy sclerosis of hand bones
HP:0004281Irregular sclerosis of hand bones
HP:0004054Sclerosis of hand bone
HP:0020132Thickening of the tubular basement membrane
HP:0009773Symphalangism affecting the phalanges of the hand
HP:0007110Central hypoventilation
HP:0002791Hypoventilation
HP:0009770Curved phalanges of the hand
http://purl.obolibrary.org/obo/UBERON_0011318capsule of temporomandibular joint
HP:0020130Increased urinary neutrophil gelatinase-associated lipocalin
HP:0009771Osteolytic defects of the phalanges of the hand
HP:0009699Osteolytic defects of the hand bones
HP:0045039Osteolysis involving bones of the upper limbs
HP:0002797Osteolysis
HP:0020135Myofibromatosis
HP:0031459Soft tissue neoplasm
HP:0009776Adactyly
HP:0007115Orbital encephalocele
HP:0020136Anticardiolipin IgG antibody positivity
HP:0003613Antiphospholipid antibody positivity
HP:0009777Absent thumb
HP:0009686Absent epiphyses of the thumb
HP:0010228Absent epiphyses of the phalanges of the hand
HP:0009599Abnormality of thumb epiphysis
HP:0020133Podocyte hypertrophy
HP:0031265Abnormal podocyte morphology
HP:0009775Amniotic constriction ring
HP:0020134Increased urine neutrophil count
HP:0012085Pyuria
HP:0007112Temporal cortical atrophy
HP:0002120Cerebral cortical atrophy
HP:0002059Cerebral atrophy
HP:0002472Small cerebral cortex
HP:0032119Narrow angle glaucoma
HP:0000501Glaucoma
HP:0032118Retinitis
HP:0007117Corticospinal tract atrophy
HP:00097793-4 toe syndactyly
HP:0032116Macrosquare-wave jerks
HP:0032114Saccadic intrusion
HP:0010769Pilonidal sinus
http://purl.obolibrary.org/obo/UBERON_0035322right common iliac artery
http://purl.obolibrary.org/obo/UBERON_0011314anterior subdivision of masseter
http://purl.obolibrary.org/obo/UBERON_0011313posterior subdivision of masseter
HP:0032100Abnormal doll's eye reflex
HP:0010770Pilonidal fistula
HP:0010771Pilonidal abscess
HP:0010767Sacrococcygeal pilonidal abnormality
HP:0010773Partial anomalous pulmonary venous return
HP:0010774Cor triatriatum
HP:0032102Wilson sign
HP:0010775Vascular ring
HP:0011587Abnormal branching pattern of the aortic arch
HP:0020128Aplasia of the olfactory tract
HP:0020126Prostate mass
HP:0008775Abnormal prostate morphology
HP:0020127Periarticular soft-tissue mass
HP:0009790Hemisacrum
HP:0009791Bifid sacrum
HP:0008490Sacral segmentation defect
HP:0020120Retinal nerve fiber edema
HP:0009783Biceps aplasia
HP:0020121Conception by assisted reproductive technology
HP:0009781Lester's sign
HP:0009782Aplasia/Hypoplasia of the biceps
HP:0020125Spontaneous conjunctival filtering bleb
HP:0009788Quadriceps aplasia
HP:0009787Aplasia/Hypoplasia of the quadriceps
HP:0020122Bite cells
HP:0009785Triceps aplasia
HP:0009784Aplasia/Hypoplasia of the triceps
HP:0001468Aplasia/Hypoplasia involving the musculature of the upper arm
HP:0001457Abnormality of the musculature of the upper arm
HP:0100854Aplasia of the musculature
HP:0020123Tympanosclerosis
HP:0009786Aplasia/Hypoplasia of the musculature of the thigh
HP:0007123Subcortical dementia
http://purl.obolibrary.org/obo/UBERON_0035316prostatic capsule
HP:0032108Mildly reduced contrast sensitivity
HP:0010776Tracheobronchmegaly
http://purl.obolibrary.org/obo/UBERON_0011322mylohyoid nerve
HP:0007129Cerebellar medulloblastoma
HP:0002885Medulloblastoma
HP:0010777Bronchomegaly
HP:0032107Limbal stem cell deficiency
http://purl.obolibrary.org/obo/UBERON_0011321masseteric nerve
HP:0009789Perianal abscess
HP:0031292Cutaneous abscess
HP:0032106Conjunctival icterus
HP:0010778Tracheomegaly
http://purl.obolibrary.org/obo/UBERON_0011320ligament of temporomandibular joint
HP:0032105Macrosaccadic oscillations
HP:0032104Saccadic oscillation
HP:0010779Large pelvis bone
http://purl.obolibrary.org/obo/UBERON_0035313posterior wall of laryngopharynx
HP:0032109Moderately reduced contrast sensitivity
HP:0032036Abnormal contrast sensitivity
HP:0010780Hyperacusis
HP:0025112Sound sensitivity
HP:0010782Shoulder dimple
HP:0020117Hypoplastic dermoepidermal hemidesmosomes
HP:0020118Radial artery aplasia
HP:0031640Abnormal radial artery morphology
HP:0007133Progressive peripheral neuropathy
HP:0020110Bone fracture
HP:0009795Branchial fistula
HP:0007132Pallidal degeneration
HP:0012157Subcortical cerebral atrophy
HP:0002453Abnormal globus pallidus morphology
HP:0007131Acute demyelinating polyneuropathy
HP:0009793Presacral teratoma
HP:0020113Decreased proportion of CD4+CD25+ regulatory T cells
HP:0009798Euthyroid goiter
HP:0020114Persistent human papillomavirus infection
HP:0009799Supernumerary spleens
HP:0009796Branchial cyst
HP:0009794Branchial anomaly
HP:0020112Increased proportion of CD4+CD25+ regulatory T cells
HP:0020111Abnormal CD4+CD25+ regulatory T cell proportion
HP:0009797Cholesteatoma
HP:0100799Neoplasm of the middle ear
HP:0010788Testicular neoplasm
HP:0100848Neoplasm of the male external genitalia
HP:0033019Male reproductive system neoplasm
http://purl.obolibrary.org/obo/UBERON_0011332extrinsic tongue pre-muscle mass
HP:0010789Abnormality of the Leydig cells
HP:0032165Placental mesenchymal dysplasia
HP:0032164Increased blood folate concentration
http://purl.obolibrary.org/obo/UBERON_0001949gingival epithelium
http://purl.obolibrary.org/obo/UBERON_0002424oral epithelium
http://purl.obolibrary.org/obo/UBERON_0006915stratified squamous epithelium
HP:0032168Clostridium difficile colitis
HP:0032167Clostridium difficile enteritis
HP:0032166Unusual gastrointestinal infection
HP:0032161Coccidioidal meningitis
HP:0032160Cryptococcal meningitis
http://purl.obolibrary.org/obo/UBERON_0001943midbrain tegmentum
HP:0020186Multilobulated spleen
HP:0020184Decreased circulating A-type natriuretic peptide level
HP:0020185Superior cerebellar dysplasia
HP:0007033Cerebellar dysplasia
HP:0020188Anterior predominant pachygyria with 5-10 mm cortical thickness
HP:0020189Posterior predominant thick cortex pachygyria
HP:0020183Increased circulating A-type natriuretic peptide level
HP:0020182Abnormal A-type atrial natriuretic peptide level
HP:0020180Elevated haptoglobin level
HP:0020181Reduced haptoglobin level
HP:0032155Abdominal cramps
http://purl.obolibrary.org/obo/UBERON_0001957submucosa of bronchus
http://purl.obolibrary.org/obo/UBERON_0004777respiratory system submucosa
HP:0032154Aphthous ulcer
http://purl.obolibrary.org/obo/UBERON_0001956cartilage of bronchus
http://purl.obolibrary.org/obo/UBERON_0001959white pulp of spleen
http://purl.obolibrary.org/obo/UBERON_1000023spleen pulp
HP:0032152Keratosis pilaris
http://purl.obolibrary.org/obo/UBERON_0001958terminal bronchiole epithelium
http://purl.obolibrary.org/obo/UBERON_0002051epithelium of bronchiole
http://purl.obolibrary.org/obo/UBERON_0002031epithelium of bronchus
HP:0032159Fungal meningitis
HP:0001287Meningitis
HP:0032157Recurrent genital herpes
HP:0032156Skin detachment
http://purl.obolibrary.org/obo/UBERON_0001951epithelium of nasopharynx
http://purl.obolibrary.org/obo/UBERON_0004814upper respiratory tract epithelium
http://purl.obolibrary.org/obo/UBERON_0001950neocortex
HP:0032151Episodic eosinophilia
HP:0001880Eosinophilia
HP:0020064Abnormal eosinophil count
HP:0001879Abnormal eosinophil morphology
HP:0032150Paroxysmal rectal pain
HP:0500005Anal pain
http://purl.obolibrary.org/obo/UBERON_0001954Ammon's horn
HP:0020175Reduced cholinesterase level
HP:0020176Cholesterol crystalluria
HP:0020173Reduced drug efficacy
HP:0020174Refractory drug response
HP:0020179Abnormal haptoglobin level
HP:0020177Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells
HP:0020178Abnormal dendritic cell count
HP:0020171Decreased blood drug concentration
HP:0020172Adverse drug response
HP:0020170Increased blood drug concentration
http://purl.obolibrary.org/obo/UBERON_0001968semen
HP:0032144Coffee ground vomitus
HP:0002239Gastrointestinal hemorrhage
HP:0032143Burning mouth
HP:0032142Fetor hepaticus
HP:0100812Breath odour
HP:0032141Precordial pain
HP:0100749Chest pain
http://purl.obolibrary.org/obo/UBERON_0001969blood plasma
HP:0032147Erythromelalgia
HP:0032146HbC hemoglobin
HP:0032145Sural nerve atrophy
http://purl.obolibrary.org/obo/UBERON_0001963bronchial-associated lymphoid tissue
HP:0020164Ophthalmic artery occlusion
HP:0020165Branch retinal vein occlusion
HP:0020163Cilioretinal artery occlusion
HP:0020169Abnormal drug response
HP:0020166Central retinal vein occlusion
HP:0020167Hemiretinal vein occlusion
HP:0012636Retinal vein occlusion
HP:0032149Breakthrough pain
HP:0032148Episodic pain
HP:0020160GM1-ganglioside accumulation
HP:0020161Branch retinal artery occlusion
HP:0025326Retinal arterial occlusion
HP:0032133Transient decreased circulating total IgG
http://purl.obolibrary.org/obo/UBERON_0001978parenchyma of pancreas
HP:0032131Cervical dysplasia
HP:0032130Mycobacterium abscessus abscessus infection
HP:0032137Decreased circulating IgG3 level
HP:0032136Decreased circulating IgG1 level
HP:0032134Chronic decreased circulating total IgG
HP:0032132Decreased circulating total IgG
http://purl.obolibrary.org/obo/UBERON_0001971gastric juice
http://purl.obolibrary.org/obo/UBERON_0001970bile
HP:0020159Reduced response to gonadotropin-releasing hormone stimulation test
HP:0031279Abnormal response to gonadotropin-releasing hormone stimulation test
HP:0031073Abnormal response to endocrine stimulation test
HP:0031072Abnormal endocrine physiology
http://purl.obolibrary.org/obo/UBERON_0001972submucosa of esophagus
http://purl.obolibrary.org/obo/UBERON_0001974lamina propria of esophagus
http://purl.obolibrary.org/obo/UBERON_0001977blood serum
http://purl.obolibrary.org/obo/UBERON_0001976epithelium of esophagus
HP:0020153Positive blood 1,3 beta glucan test
http://purl.obolibrary.org/obo/NBO_0002603regulation of sexual activity
HP:0020154Nevus comedonicus
HP:0010816Epidermal nevus
HP:0020151Anti-DNA antibody positivity
HP:0020152Distal joint laxity
HP:0001388Joint laxity
HP:0020157Thin zona pellucida
HP:0020158Increased circulating adrenic acid concentration
HP:0020156Abnormal zona pellucida morphology
HP:0020155Abnormal oocyte morphology
HP:0032139Reduced isohemagglutinin level
HP:0032138Decreased circulating IgG4 level
HP:0032135Decreased circulating IgG subclass level
HP:0004315Decreased circulating IgG level
HP:0020150Elevated urinary uromodulin
http://purl.obolibrary.org/obo/UBERON_0001905pineal body
http://purl.obolibrary.org/obo/UBERON_0010134secretory circumventricular organ
http://purl.obolibrary.org/obo/UBERON_0010133neuroendocrine gland
http://purl.obolibrary.org/obo/UBERON_0005408circumventricular organ
http://purl.obolibrary.org/obo/UBERON_0001908optic tract
HP:0007190Neuronal loss in the cerebral cortex
HP:0002529Neuronal loss in central nervous system
HP:0007193Generalized tonic-clonic seizures on awakening
HP:0007188Congenital facial diplegia
HP:0001349Facial diplegia
HP:0010628Facial palsy
HP:0010827Abnormality of the seventh cranial nerve
HP:0006824Cranial nerve paralysis
HP:0007187Focal lissencephaly
HP:0007185Loss of consciousness
HP:0004372Reduced consciousness/confusion
http://purl.obolibrary.org/obo/CHEBI_36902chalcogen hydride
http://purl.obolibrary.org/obo/CHEBI_33242inorganic hydride
http://purl.obolibrary.org/obo/UBERON_0001913milk
http://purl.obolibrary.org/obo/UBERON_0006539mammary gland fluid/secretion
http://purl.obolibrary.org/obo/UBERON_0001912lobule of mammary gland
HP:0032198Decreased prothrombin time
HP:0032199Abnormal prothrombin time
HP:0032197Deep S wave in lead V5
HP:0032196Prominent S wave in lead I
http://purl.obolibrary.org/obo/UBERON_0001917endothelium of artery
http://purl.obolibrary.org/obo/UBERON_0001916endothelium of arteriole
http://purl.obolibrary.org/obo/UBERON_0004700arterial system endothelium
http://purl.obolibrary.org/obo/UBERON_0001919endothelium of vein
http://purl.obolibrary.org/obo/UBERON_0001918endothelium of venule
http://purl.obolibrary.org/obo/UBERON_0004701venous system endothelium
HP:0032191Torn meniscus
HP:0032190Abnormal meniscus morphology
HP:0032195Abnormal S wave
HP:0012249Abnormal ST segment
HP:0032193Decreased low-density lipoprotein particle size
HP:0032192Hydatidiform mole
HP:0007199Progressive spastic paraparesis
HP:0002313Spastic paraparesis
HP:0002061Lower limb spasticity
HP:0001257Spasticity
HP:0001276Hypertonia
HP:0002385Paraparesis
HP:0010551Paraplegia/paraparesis
HP:0032188Cellular hypersensitivity to mitomycin C
HP:0032187Anal intraepithelial neoplasia
HP:0032186Anal neoplasm
HP:0032185Disseminated molluscum contagiosum
HP:0032163Molluscum contagiosum
HP:0032189Cellular hypersensitivity to diepoxybutane
HP:0032181Anomalous hepatic venous drainage into the left atrium
HP:0032177Parenchymal consolidation
HP:0032176Apical pulmonary opacity
HP:0032175Signet ring sign
HP:0032174Tree-in-bud pattern
HP:0032178Flaky paint dermatosis
HP:0032173Continuous diaphragm sign
HP:0032172Air crescent sign
HP:0032171Bladder pain
HP:0032170Severe varicella zoster infection
HP:0031691Severe viral infection
HP:0020197Increased circulating arachidonic acid level
HP:0020195IgG heavy chain paraproteinemia
HP:0020196IgM heavy chain paraproteinemia
HP:0020199Decreased circulating 18-hydroxycortisone level
HP:0020190Perisylvian predominant thick cortex pachygyria
HP:0020193Prolonged reptilase time
HP:0020194IgA heavy chain paraproteinemia
HP:0031049Heavy-chain paraproteinemia
HP:0020191Anterior predominant thick cortex pachygyria
HP:0020187Thick pachygyria
HP:0020192Pachygyria with 5-10 mm cortical thickness
HP:0001302Pachygyria
http://purl.obolibrary.org/obo/GO_0034250positive regulation of cellular amide metabolic process
http://purl.obolibrary.org/obo/GO_0048871multicellular organismal homeostasis
http://purl.obolibrary.org/obo/GO_0048873homeostasis of number of cells within a tissue
http://purl.obolibrary.org/obo/GO_0001894tissue homeostasis
http://purl.obolibrary.org/obo/GO_0060249anatomical structure homeostasis
HP:0009909Uplifted earlobe
HP:0009907Attached earlobe
HP:0009908Anterior creases of earlobe
HP:0009901Crumpled ear
HP:0009902Cleft helix
HP:0009900Unilateral deafness
HP:0009905Thin ear helix
HP:0009906Aplasia/Hypoplasia of the earlobes
HP:0000363Abnormality of earlobe
HP:0009903Conjunctival nodule
HP:0009904Prominent ear helix
HP:0009918Ectopia pupillae
HP:0009919Retinoblastoma
HP:0012777Retinal neoplasm
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11249SPN (human)
HP:0010906Hyperhistidinemia
HP:0010908Abnormal circulating lysine concentration
HP:0009913Aplasia/Hypoplasia of the tragus
HP:0009912Abnormality of the tragus
HP:0009910Aplasia of the middle ear ossicles
http://purl.obolibrary.org/obo/GO_0048845venous blood vessel morphogenesis
http://purl.obolibrary.org/obo/GO_0048514blood vessel morphogenesis
http://purl.obolibrary.org/obo/GO_0035239tube morphogenesis
HP:0009916Anisocoria
HP:0009917Persistent pupillary membrane
HP:0009914Cyclopia
HP:0009915Corneal asymmetry
HP:0010904Abnormal circulating histidine concentration
http://purl.obolibrary.org/obo/NBO_0000339motor coordination
http://purl.obolibrary.org/obo/CHEBI_71671aldonate(1-)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11241SPI1 (human)
http://purl.obolibrary.org/obo/CHEBI_71666gamma-amino acid anion
http://purl.obolibrary.org/obo/PR_P28906hematopoietic progenitor cell antigen CD34 (human)
http://purl.obolibrary.org/obo/PR_000001003CD34 molecule
http://purl.obolibrary.org/obo/PR_P28907ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 (human)
http://purl.obolibrary.org/obo/PR_000001408ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1
http://purl.obolibrary.org/obo/PR_000001281ADP-ribosyl cyclase
http://purl.obolibrary.org/obo/UBERON_5003624manual digit 4 plus metapodial segment
http://purl.obolibrary.org/obo/UBERON_5003623manual digit 3 plus metapodial segment
http://purl.obolibrary.org/obo/UBERON_5003625manual digit 5 plus metapodial segment
http://purl.obolibrary.org/obo/GO_1901464negative regulation of tetrapyrrole biosynthetic process
HP:0010950Abnormality of the fourth ventricle
http://purl.obolibrary.org/obo/GO_0009235cobalamin metabolic process
http://purl.obolibrary.org/obo/GO_1901465positive regulation of tetrapyrrole biosynthetic process
http://purl.obolibrary.org/obo/GO_1901463regulation of tetrapyrrole biosynthetic process
http://purl.obolibrary.org/obo/UBERON_5003622manual digit 2 plus metapodial segment
http://purl.obolibrary.org/obo/UBERON_5002389manual digit plus metapodial segment
HP:0007302Bipolar affective disorder
HP:0100754Mania
HP:0007301Oromotor apraxia
HP:0009967Complete duplication of the proximal phalanx of the 3rd finger
HP:0010952Mild fetal ventriculomegaly
HP:0002119Ventriculomegaly
HP:0009968Partial duplication of the distal phalanx of the 3rd finger
HP:0010953Noncommunicating hydrocephalus
HP:0000238Hydrocephalus
HP:0009965Complete duplication of the distal phalanx of the 3rd finger
HP:0009962Duplication of the distal phalanx of the 3rd finger
HP:0009357Abnormality of the distal phalanx of the 3rd finger
HP:0010954Hypoplastic right heart
HP:0011723Congenital malformation of the right heart
HP:0009966Complete duplication of the middle phalanx of the 3rd finger
HP:0009960Complete duplication of the phalanges of the 3rd finger
HP:0010956Fetal megacystis
HP:0010955Dilatation of the bladder
http://www.informatics.jax.org/marker/MGI:97281Ncam1 (mouse)
HP:0010957Congenital posterior urethral valve
HP:0010481Urethral valve
HP:0000796Urethral obstruction
HP:0009969Partial duplication of the middle phalanx of the 3rd finger
HP:0009963Duplication of the middle phalanx of the 3rd finger
HP:0004172Abnormality of the middle phalanx of the 3rd finger
HP:0007308Extrapyramidal dyskinesia
HP:0002071Abnormality of extrapyramidal motor function
HP:0010958Bilateral renal agenesis
HP:0000104Renal agenesis
HP:0008678Renal hypoplasia/aplasia
HP:0007307Rapid neurologic deterioration
HP:0010959Congenital cystic adenomatoid malformation of the lung
http://purl.obolibrary.org/obo/UBERON_5003635pedal digit 5 plus metapodial segment
http://purl.obolibrary.org/obo/UBERON_5006052digit 5 plus metapodial segment
http://purl.obolibrary.org/obo/UBERON_5003634pedal digit 4 plus metapodial segment
http://purl.obolibrary.org/obo/UBERON_5006051digit 4 plus metapodial segment
HP:0010961Intralobar sequestration
HP:0010962Extralobar sequestration
HP:0010960Bronchopulmonary sequestration
http://purl.obolibrary.org/obo/UBERON_5003631pedal digit 1 plus metapodial segment
http://purl.obolibrary.org/obo/UBERON_5006048digit 1 plus metapodial segment
http://purl.obolibrary.org/obo/UBERON_5003633pedal digit 3 plus metapodial segment
http://purl.obolibrary.org/obo/UBERON_5006050digit 3 plus metapodial segment
http://purl.obolibrary.org/obo/UBERON_5003632pedal digit 2 plus metapodial segment
http://purl.obolibrary.org/obo/UBERON_5006049digit 2 plus metapodial segment
http://purl.obolibrary.org/obo/UBERON_5001466pedal digit plus metapodial segment
http://purl.obolibrary.org/obo/UBERON_5002544digit plus metapodial segment
HP:0009970Partial duplication of the proximal phalanx of the 3rd finger
HP:0009964Duplication of the proximal phalanx of the 3rd finger
HP:0009358Abnormality of the proximal phalanx of the 3rd finger
HP:0009961Partial duplication of the phalanges of the 3rd finger
HP:0007313Cerebral degeneration
HP:0007311Short stepped shuffling gait
HP:0002362Shuffling gait
HP:0009978Complete duplication of the distal phalanx of the 4th finger
HP:0010963Absence of stomach bubble on fetal sonography
HP:0009979Complete duplication of the middle phalanx of the 4th finger
HP:0010965Abnormal circulating phytanic acid level
HP:0010971Absence of Lutheran antigen on erythrocytes
HP:0010970Blood group antigen abnormality
HP:0009981Partial duplication of the distal phalanx of the 4th finger
HP:0009975Duplication of the distal phalanx of the 4th finger
HP:0009282Abnormality of the distal phalanx of the 4th finger
HP:0009982Partial duplication of the middle phalanx of the 4th finger
HP:0009976Duplication of the middle phalanx of the 4th finger
HP:0009283Abnormality of the middle phalanx of the 4th finger
HP:0009980Complete duplication of the proximal phalanx of the 4th finger
HP:0009973Complete duplication of the phalanges of the 4th finger
HP:0009983Partial duplication of the proximal phalanx of the 4th finger
HP:0009977Duplication of the proximal phalanx of the 4th finger
HP:0009284Abnormality of the proximal phalanx of the 4th finger
HP:0009974Partial duplication of the phalanges of the 4th finger
HP:0009972Duplication of phalanx of 4th finger
HP:0009971Polydactyly affecting the 4th finger
HP:0009172Abnormal 4th finger phalanx morphology
HP:0007321Deep white matter hypodensities
HP:0007328Impaired pain sensation
HP:0007327Mixed demyelinating and axonal polyneuropathy
HP:0007326Progressive choreoathetosis
HP:0001266Choreoathetosis
HP:0002072Chorea
HP:0007325Generalized dystonia
HP:0001332Dystonia
HP:0010977Abnormal phagocytosis
http://purl.obolibrary.org/obo/UBERON_0035237branch of internal carotid artery
HP:0010982Polygenic inheritance
HP:0010983Oligogenic inheritance
HP:0010984Digenic inheritance
HP:0001426Multifactorial inheritance
HP:0009992Complete duplication of the middle phalanx of the 5th finger
HP:0009993Complete duplication of the proximal phalanx of the 5th finger
HP:0007330Frontal encephalocele
HP:0002084Encephalocele
HP:0011815Cephalocele
HP:0009991Complete duplication of the distal phalanx of the 5th finger
HP:0009986Complete duplication of the phalanges of the 5th finger
HP:0009996Partial duplication of the proximal phalanx of the 5th finger
HP:0009990Duplication of the proximal phalanx of the 5th finger
HP:0009150Abnormality of the proximal phalanx of the 5th finger
HP:0007335Recurrent encephalopathy
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0009994Partial duplication of the distal phalanx of the 5th finger
HP:0009988Duplication of the distal phalanx of the 5th finger
HP:0007333Hypoplasia of the frontal lobes
HP:0006872Cerebral hypoplasia
HP:0009995Partial duplication of the middle phalanx of the 5th finger
HP:0009989Duplication of the middle phalanx of the 5th finger
HP:0009987Partial duplication of the phalanges of the 5th finger
HP:0009985Duplication of phalanx of 5th finger
HP:0010985Gonosomal inheritance
HP:0007338Hypermetric saccades
HP:0010988Abnormality of the extrinsic pathway
HP:0009929Abnormality of the columella
http://purl.obolibrary.org/obo/GO_0010256endomembrane system organization
http://purl.obolibrary.org/obo/UBERON_0035295left ear
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2983DNTT (human)
HP:0010918Abnormal circulating cysteine concentration
HP:0010919Abnormal circulating homocysteine concentration
HP:0009920Nevus of Ota
HP:0009921Duane anomaly
HP:0025068Incomitant strabismus
HP:0010910Hypervalinemia
http://purl.obolibrary.org/obo/UBERON_0011265carpometacarpal joint of digit 1
HP:0009922Vascular remnant arising from the disc
HP:0010911Hyperleucinemia
HP:0004357Abnormal circulating leucine concentration
HP:0009927Aplasia of the nose
HP:0009928Thick nasal alae
HP:0010913Hyperisoleucinemia
HP:0010912Abnormal circulating isoleucine concentration
HP:0010914Abnormal circulating valine concentration
HP:0009926Epiphora
HP:0000632Lacrimation abnormality
http://purl.obolibrary.org/obo/UBERON_0011270dorsal trunk
http://purl.obolibrary.org/obo/UBERON_0011275nail of manual digit 3
http://purl.obolibrary.org/obo/UBERON_0011274nail of manual digit 2
http://purl.obolibrary.org/obo/UBERON_0011273nail of manual digit 1
http://purl.obolibrary.org/obo/UBERON_0011272embryonic skin basal layer
HP:0009930Asymmetry of the nares
HP:0009931Enlarged naris
http://purl.obolibrary.org/obo/UBERON_0011279nail of pedal digit 2
HP:0009934Supernumerary naris
http://purl.obolibrary.org/obo/UBERON_0011278nail of pedal digit 1
http://purl.obolibrary.org/obo/UBERON_0011277nail of manual digit 5
HP:0009932Single naris
HP:0010921Coralliform cataract
http://purl.obolibrary.org/obo/UBERON_0011276nail of manual digit 4
http://purl.obolibrary.org/obo/UBERON_0009565nail of manual digit
HP:0009933Narrow naris
HP:0010922Membranous cataract
HP:0009938Sunken cheeks
HP:0010923Anterior subcapsular cataract
HP:0009939Mandibular aplasia
HP:0009936Narrow nasal septum
HP:0010925Nuclear punctate cataract
HP:0009937Facial hirsutism
HP:0010926Aculeiform cataract
http://purl.obolibrary.org/obo/UBERON_0011282nail of pedal digit 5
http://purl.obolibrary.org/obo/UBERON_0011281nail of pedal digit 4
http://purl.obolibrary.org/obo/UBERON_0011280nail of pedal digit 3
http://purl.obolibrary.org/obo/UBERON_0009567nail of pedal digit
http://purl.obolibrary.org/obo/GO_0009295nucleoid
http://purl.obolibrary.org/obo/GO_1901402negative regulation of tetrapyrrole metabolic process
http://purl.obolibrary.org/obo/GO_1901403positive regulation of tetrapyrrole metabolic process
http://purl.obolibrary.org/obo/GO_1901401regulation of tetrapyrrole metabolic process
HP:0009941Asymmetry of the mouth
HP:0009940Asymmetry of the mandible
HP:0000267Cranial asymmetry
http://purl.obolibrary.org/obo/UBERON_0011289pharyngobasilar fascia
http://purl.obolibrary.org/obo/UBERON_0006614aponeurosis
HP:0009943Complete duplication of thumb phalanx
HP:0009944Partial duplication of thumb phalanx
HP:0009942Duplication of thumb phalanx
HP:0010933Hyperxanthinemia
HP:0004368Increased purine level
HP:0004352Abnormal circulating purine concentration
HP:0010932Abnormal circulating nucleobase concentration
HP:0010934Xanthinuria
HP:0010949Abnormality of umbilical vein blood flow
HP:0009952Complete duplication of the middle phalanx of the 2nd finger
HP:0010002Complete duplication of the middle phalanges of the hand
HP:0009953Partial duplication of the middle phalanx of the 2nd finger
HP:0010005Partial duplication of the middle phalanges of the hand
HP:0009949Duplication of the middle phalanx of the 2nd finger
HP:0010008Duplication of the middle phalanx of hand
HP:0009834Abnormal proximal phalanx morphology of the hand
HP:0009543Abnormality of the middle phalanx of the 2nd finger
HP:0009950Complete duplication of the distal phalanx of the 2nd finger
HP:0010001Complete duplication of the distal phalanges of the hand
HP:0009951Partial duplication of the distal phalanx of the 2nd finger
HP:0010004Partial duplication of the distal phalanges of the hand
HP:0009948Duplication of the distal phalanx of the 2nd finger
HP:0009542Abnormality of the distal phalanx of the 2nd finger
HP:0010941Aplasia of the nasal bone
HP:0010940Aplasia/Hypoplasia of the nasal bone
HP:0010942Echogenic intracardiac focus
HP:0009954Complete duplication of the proximal phalanx of the 2nd finger
HP:0010000Complete duplication of the proximal phalanges of the hand
HP:0009957Complete duplication of the phalanges of the 2nd finger
HP:0009998Complete duplication of phalanx of hand
HP:0010943Echogenic fetal bowel
http://purl.obolibrary.org/obo/UBERON_0011298submucosa of uterine tube
HP:0009955Partial duplication of the proximal phalanx of the 2nd finger
HP:0009956Partial duplication of the phalanges of the 2nd finger
HP:0010003Partial duplication of the proximal phalanges of the hand
HP:0009999Partial duplication of the phalanx of hand
HP:0009947Duplication of the proximal phalanx of the 2nd finger
HP:0009945Duplication of phalanx of 2nd finger
HP:0009946Polydactyly affecting the 2nd finger
HP:0010006Duplication of the proximal phalanx of hand
HP:0009544Abnormality of the proximal phalanx of the 2nd finger
HP:0009541Abnormality of the phalanges of the 2nd finger
http://purl.obolibrary.org/obo/UBERON_0035267neck of gallbladder
HP:0010946Dilatation of the renal pelvis
HP:0010945Fetal pyelectasis
HP:0011425Fetal ultrasound soft marker
HP:0010947Abnormality of ductus venosus blood flow
HP:0009959Duplication of phalanx of 3rd finger
HP:0009316Abnormal 3rd finger phalanx morphology
HP:0009958Polydactyly affecting the 3rd finger
HP:0006159Mesoaxial hand polydactyly
HP:0100260Mesoaxial polydactyly
HP:0010948Abnormality of the fetal cardiovascular system
http://purl.obolibrary.org/obo/UBERON_0011220mastoid process of temporal bone
HP:0032203Lymphoid nodular hyperplasia
HP:0032202Vulvar intraepithelial neoplasia
HP:0032201Rotator cuff tear
HP:0032200Perivascular fibrosis
HP:0007272Progressive psychomotor deterioration
HP:0002344Progressive neurologic deterioration
HP:0007271Occipital myelomeningocele
HP:0002436Occipital meningocele
HP:0007270Atypical absence seizure
HP:0002121Generalized non-motor (absence) seizure
HP:0011146Dialeptic seizure
http://purl.obolibrary.org/obo/CHEBI_22660aspartic acid
http://purl.obolibrary.org/obo/CHEBI_66873C4-dicarboxylic acid
HP:0007265Absent mesencephalon
HP:0002418Abnormality of midbrain morphology
HP:0007263Spinocerebellar atrophy
HP:0001272Cerebellar atrophy
HP:0007262Symmetric peripheral demyelination
HP:0007268Aprosencephaly
HP:0007267Chronic axonal neuropathy
HP:0007266Cerebral dysmyelination
http://purl.obolibrary.org/obo/GO_0000819sister chromatid segregation
http://purl.obolibrary.org/obo/GO_0098813nuclear chromosome segregation
HP:0032205Increased circulating galectin-3 level
HP:0032204Chronic active Epstein-Barr virus infection
http://purl.obolibrary.org/obo/CHEBI_5386globin
http://purl.obolibrary.org/obo/CHEBI_35137hemoprotein
http://purl.obolibrary.org/obo/CHEBI_35136iron protein
http://purl.obolibrary.org/obo/CHEBI_35134metalloprotein
http://purl.obolibrary.org/obo/CHEBI_33837conjugated protein
http://purl.obolibrary.org/obo/CHEBI_36080protein
http://purl.obolibrary.org/obo/CHEBI_33695information biomacromolecule
HP:0032208Increased urinary type 1 collagen N-terminal telopeptide level
http://purl.obolibrary.org/obo/CHEBI_22658aspartate family amino acid
http://purl.obolibrary.org/obo/CHEBI_46629oxo group
http://purl.obolibrary.org/obo/CHEBI_33246inorganic group
http://purl.obolibrary.org/obo/CHEBI_146500D-Galp-(1->3)-D-GalpNAc
http://purl.obolibrary.org/obo/CHEBI_22480amino disaccharide
http://purl.obolibrary.org/obo/CHEBI_63353disaccharide derivative
http://purl.obolibrary.org/obo/CHEBI_146306partially-defined glycan
http://purl.obolibrary.org/obo/CHEBI_22484galactosamine oligosaccharide
http://purl.obolibrary.org/obo/CHEBI_22483amino oligosaccharide
http://purl.obolibrary.org/obo/CHEBI_63563oligosaccharide derivative
HP:0020214Startle-induced seizure
HP:0020215Thinking-induced seizure
http://purl.obolibrary.org/obo/CHEBI_22653asparagine
http://purl.obolibrary.org/obo/CHEBI_35735dicarboxylic acid monoamide
http://purl.obolibrary.org/obo/CHEBI_23690dicarboxylic acid amide
HP:0020218Focal aware atonic seizure
HP:0007281Developmental stagnation
HP:0007280Acute infantile spinal muscular atrophy
HP:0007269Spinal muscular atrophy
HP:0007274Recurrent bacterial meningitis
HP:0006946Recurrent meningitis
HP:0020212Reading-induced seizure
HP:0020213Somatosensory-induced seizure
HP:0020210Praxis-induced seizure
HP:0020211Proprioceptive-induced seizure
HP:0007277Paucity of anterior horn motor neurons
http://purl.obolibrary.org/obo/UBERON_0011234fibrous membrane of synovial tendon sheath
http://purl.obolibrary.org/obo/UBERON_0011233synovial membrane of synovial tendon sheath
http://purl.obolibrary.org/obo/UBERON_0007616layer of synovial tissue
http://purl.obolibrary.org/obo/UBERON_0011241ethmoid region
HP:0020205Tubulointerstitial fungal infiltration
HP:0020206Simple ear
HP:0020203Z-band streaming
HP:0020204Tubulointerstitial bacterial infiltration
HP:0020209Hot water-induced seizure
HP:0007293Anterior sacral meningocele
HP:0020208Eating-induced seizure
HP:0007291Posterior fossa cyst
HP:0007286Horizontal jerk nystagmus
HP:0007285Facial palsy secondary to cranial hyperostosis
HP:0020202Abnormal Z disc morphology
HP:0020201Abnormal sarcomere morphology
HP:0007289Limb fasciculations
HP:0020200Increased circulating 18-hydroxycortisone level
HP:0020198Abnormal circulating 18-hydroxycorticosterone level
http://purl.obolibrary.org/obo/UBERON_0011249appendicular skeletal system
http://purl.obolibrary.org/obo/CHEBI_22676auxin
http://purl.obolibrary.org/obo/CHEBI_37848plant hormone
http://purl.obolibrary.org/obo/CHEBI_26155plant growth regulator
http://purl.obolibrary.org/obo/CHEBI_39317growth regulator
http://purl.obolibrary.org/obo/GO_0000821regulation of arginine metabolic process
http://purl.obolibrary.org/obo/GO_0000820regulation of glutamine family amino acid metabolic process
HP:0007295Chaotic rapid conjugate ocular movements
HP:0007299Dysfunction of lateral corticospinal tracts
HP:0011441Abnormality of the medulla oblongata
http://purl.obolibrary.org/obo/UBERON_0001869cerebral hemisphere
http://purl.obolibrary.org/obo/UBERON_0001868skin of chest
HP:0032242Cervical intraepithelial neoplasia
HP:0032240Elevated circulating E selectin level
HP:0032247Persistent CMV viremia
HP:0010871Sensory ataxia
HP:0010831Impaired proprioception
HP:0010873Cervical spinal cord atrophy
HP:0006827Atrophy of the spinal cord
HP:0010874Tendon xanthomatosis
HP:0000991Xanthomatosis
HP:0032244Decreased serum thromboxane B2
http://purl.obolibrary.org/obo/UBERON_0001862vestibular labyrinth
HP:0009890High anterior hairline
http://purl.obolibrary.org/obo/UBERON_0001867cartilage of external ear
http://purl.obolibrary.org/obo/UBERON_0001866sebum
HP:0007221Progressive truncal ataxia
HP:0002078Truncal ataxia
HP:0009882Short distal phalanx of finger
HP:0009883Duplication of the distal phalanx of hand
HP:0007220Demyelinating motor neuropathy
HP:0007178Motor polyneuropathy
HP:0007108Demyelinating peripheral neuropathy
HP:0009880Broad distal phalanges of all fingers
HP:0009836Broad distal phalanx of finger
HP:0009768Broad phalanges of the hand
HP:0001500Broad finger
HP:0006009Broad phalanx
HP:0009881Aplasia of the distal phalanges of the hand
HP:0009802Aplasia of the phalanges of the hand
HP:0009823Aplasia involving bones of the upper limbs
HP:0009825Aplasia involving bones of the extremities
HP:0009380Aplasia of the fingers
HP:0009886Trichorrhexis nodosa
HP:0009884Tapered distal phalanges of finger
HP:0006192Tapered phalanx of finger
HP:0007229Intracerebral periventricular calcifications
HP:0010875Chaddock reflex
HP:0009888Abnormality of secondary sexual hair
HP:0007227Macrogyria
HP:0010877Monocular strabismus
HP:0000486Strabismus
HP:0032249Coccidioidomycosis
HP:0009889Localized hirsutism
HP:0001007Hirsutism
HP:0010878Fetal cystic hygroma
HP:0032248Persistent viremia
HP:0032169Severe infection
HP:0020071Viremia
HP:0031863Bloodstream infectious agent
HP:0010879Postnatal cystic hygroma
HP:0000476Cystic hygroma
HP:0032232Increased circulating creatine kinase MB isoform
HP:0032231Hypochromia
HP:0010880Increased nuchal translucency
HP:0032230Cytoplasmic antineutrophil antibody positivity
HP:0010882Pulmonary valve atresia
HP:0032235Anti-La/SSA antibody positivity
HP:0010883Aortic valve atresia
HP:0032234Increased circulating creatine kinase MM isoform
HP:0010884Acromelia
HP:0032233Increased circulating creatine kinase BB isoform
http://purl.obolibrary.org/obo/UBERON_0001872parietal lobe
http://purl.obolibrary.org/obo/UBERON_0001871temporal lobe
http://purl.obolibrary.org/obo/UBERON_0016526lobe of cerebral hemisphere
http://purl.obolibrary.org/obo/UBERON_0001874putamen
http://purl.obolibrary.org/obo/UBERON_0001873caudate nucleus
http://purl.obolibrary.org/obo/UBERON_0001875globus pallidus
http://purl.obolibrary.org/obo/UBERON_0009663telencephalic nucleus
HP:0009893Telangiectasia of the ear
HP:0007232Spinocerebellar tract disease in lower limbs
HP:0002503Spinocerebellar tract degeneration
HP:0009894Thickened ears
HP:0000400Macrotia
HP:0009891Underdeveloped supraorbital ridges
HP:0100538Abnormality of the supraorbital ridges
HP:0007230Decreased distal sensory nerve action potential
HP:0007078Decreased amplitude of sensory action potentials
HP:0009892Anotia
HP:0008772Aplasia/Hypoplasia of the external ear
HP:0008771Aplasia/Hypoplasia of the ear
HP:0009897Horizontal crus of helix
HP:0007236Recurrent subcortical infarcts
HP:0009898Underdeveloped crus of the helix
http://purl.obolibrary.org/obo/UBERON_0001870frontal cortex
http://purl.obolibrary.org/obo/UBERON_0016529cortex of cerebral lobe
http://purl.obolibrary.org/obo/UBERON_0005401cerebral hemisphere gray matter
http://purl.obolibrary.org/obo/UBERON_0011300gray matter of telencephalon
http://purl.obolibrary.org/obo/UBERON_0019264gray matter of forebrain
HP:0009896Abnormality of the antitragus
HP:0007233Clusters of axonal regeneration
HP:0010886Osteochondritis Dissecans
HP:0007239Congenital encephalopathy
HP:0001298Encephalopathy
HP:0032239Increased circulating band cell count
HP:0009899Prominent crus of helix
HP:0009895Abnormality of the crus of the helix
HP:0007238Nonarteriosclerotic cerebral calcification
HP:0032238Increased circulating metamyelocyte count
HP:0010888Morbus Koehler
HP:0100339Abnormality of the os naviculare pedis
HP:0032237Increased circulating myelocyte count
HP:0032236Increased circulating immature neutrophil count
HP:0010889Morbus Kienboeck
HP:0004248Abnormality of the lunate bone
HP:0032221Periportal emperipolesis
HP:0010890Morbus Osgood-Schlatter
HP:0032220Interface hepatitis
HP:0012115Hepatitis
HP:0010891Morbus Scheuermann
HP:0010892Abnormal circulating branched chain amino acid concentration
HP:0032225Perifollicular fibroma
HP:0010893Abnormal circulating phenylalanine concentration
http://purl.obolibrary.org/obo/GO_1901363heterocyclic compound binding
http://purl.obolibrary.org/obo/GO_1901362organic cyclic compound biosynthetic process
HP:0010895Abnormal circulating glycine concentration
HP:0010896Hypersarcosinemia
HP:0032222Serrated intestinal polyps
http://purl.obolibrary.org/obo/UBERON_0001885dentate gyrus of hippocampal formation
http://purl.obolibrary.org/obo/CHEBI_200673-hydroxybutyric acid
http://purl.obolibrary.org/obo/CHEBI_78954(omega-1)-hydroxy fatty acid
http://purl.obolibrary.org/obo/CHEBI_359693-hydroxy monocarboxylic acid
http://purl.obolibrary.org/obo/UBERON_0001884phrenic nerve
http://purl.obolibrary.org/obo/UBERON_0001887internal capsule of telencephalon
http://purl.obolibrary.org/obo/UBERON_0002437cerebral hemisphere white matter
http://purl.obolibrary.org/obo/UBERON_0011299white matter of telencephalon
HP:0007250Recurrent external ophthalmoplegia
http://purl.obolibrary.org/obo/UBERON_0001886choroid plexus
http://purl.obolibrary.org/obo/UBERON_0036303vasculature of central nervous system
http://purl.obolibrary.org/obo/UBERON_0036302vasculature of central nervous system plus retina
http://purl.obolibrary.org/obo/UBERON_0001889trunk of phrenic nerve
http://purl.obolibrary.org/obo/UBERON_0005476spinal nerve trunk
HP:0007240Progressive gait ataxia
HP:0002066Gait ataxia
HP:0001251Ataxia
http://purl.obolibrary.org/obo/PR_Q00612glucose-6-phosphate 1-dehydrogenase X (mouse)
http://purl.obolibrary.org/obo/UBERON_0011202urachus epithelium
HP:0032229Perinuclear antineutrophil antibody positivity
HP:0010897Hypersarcosinuria
http://purl.obolibrary.org/obo/UBERON_0011201muscle layer of small intestine
HP:0032228Trichodiscoma
HP:0010898Abnormal circulating sarcosine concentration
HP:0010894Abnormal circulating serine family amino acid concentration
http://purl.obolibrary.org/obo/UBERON_0011200sacrococcygeal symphysis
HP:0007249Decreased number of small peripheral myelinated nerve fibers
HP:0032227Sebaceous hyperplasia
http://purl.obolibrary.org/obo/UBERON_0011203urachus mesenchyme
HP:0032210Decreased circulating free T3
HP:0032209Abnormal circulating free T3 concentration
HP:0031508Abnormal thyroid hormone level
HP:0002926Abnormality of thyroid physiology
HP:0032214Increased urinary transitional epithelial cell count
HP:0032213Increased urinary renal tubular epithelial cell count
HP:0032212Increased urinary squamous epithelial cell count
HP:0032211Increased urinary epithelial cell count
http://purl.obolibrary.org/obo/UBERON_0001894diencephalon
http://purl.obolibrary.org/obo/UBERON_0001893telencephalon
http://purl.obolibrary.org/obo/UBERON_0001896medulla oblongata
http://purl.obolibrary.org/obo/UBERON_0001895metencephalon
http://purl.obolibrary.org/obo/UBERON_0004733segmental subdivision of hindbrain
http://purl.obolibrary.org/obo/UBERON_0001898hypothalamus
http://purl.obolibrary.org/obo/UBERON_0001897dorsal plus ventral thalamus
HP:0007260Type II lissencephaly
http://purl.obolibrary.org/obo/UBERON_0001899epithalamus
http://purl.obolibrary.org/obo/UBERON_0001890forebrain
HP:0007258Severe demyelination of the white matter
HP:0007305CNS demyelination
http://purl.obolibrary.org/obo/UBERON_0001892rhombomere
http://purl.obolibrary.org/obo/UBERON_0004731neuromere
http://purl.obolibrary.org/obo/UBERON_0004732segmental subdivision of nervous system
http://purl.obolibrary.org/obo/UBERON_0001891midbrain
HP:0032218Decreased proportion of CD4-positive T cells
HP:0032217Indurated nodule
HP:0032216Lymphocytic infiltration of the colorectal mucosa
HP:0025090Abnormal large intestinal mucosa morphology
HP:0032215Disseminated cutaneous warts
HP:0032219Increased proportion of CD4-positive T cells
HP:0031392Abnormal proportion of CD4-positive T cells
HP:0032287Ultra-low vision with no light perception
http://purl.obolibrary.org/obo/UBERON_0001824mucosa of larynx
HP:0032286Ultra-low vision with retained light perception
http://purl.obolibrary.org/obo/UBERON_0001827secretion of lacrimal gland
HP:0032285Ultra-low vision with retained light projection
HP:0032284Ultra-low vision with retained motion projection
HP:0032123Ultra-low vision
http://purl.obolibrary.org/obo/UBERON_0001826nasal cavity mucosa
http://purl.obolibrary.org/obo/UBERON_0000379tracheal mucosa
http://purl.obolibrary.org/obo/UBERON_0004785respiratory system mucosa
http://purl.obolibrary.org/obo/UBERON_0001828gingiva
HP:0032289Oligoclonal elevation of circulating IgG
HP:0032288Polyclonal elevation of circulating IgG
HP:0032283Disseminated nontuberculous mycobacterial infection
HP:0032282Contact dermatitis
HP:0032281Abnormal base excess
http://purl.obolibrary.org/obo/UBERON_0001836saliva
HP:0032276Prominent subcalcaneal fat pad
http://purl.obolibrary.org/obo/UBERON_0001835lower lip
HP:0032275Recurrent shingles
HP:0032274Increased CSF N-Acetylaspartic acid concentration
http://purl.obolibrary.org/obo/UBERON_0001838sublingual duct
HP:0032273Increased circulating N-Acetylaspartic acid concentration
http://purl.obolibrary.org/obo/UBERON_0001839bony labyrinth
HP:0032277Lozenge-shaped umbilicus
http://purl.obolibrary.org/obo/UBERON_0001832sublingual gland
HP:0032272Elevated urinary N-acetylaspartic acid level
http://purl.obolibrary.org/obo/UBERON_0001831parotid gland
http://purl.obolibrary.org/obo/UBERON_0012102buccal salivary gland
http://purl.obolibrary.org/obo/UBERON_0000409serous gland
HP:0032271Extrapulmonary tuberculosis
http://purl.obolibrary.org/obo/UBERON_0001834upper lip
HP:0032270Optic nerve tram-track sign
http://purl.obolibrary.org/obo/UBERON_0001833lip
http://purl.obolibrary.org/obo/UBERON_0001847lobule of pinna
HP:0032264Anti-NMDA receptor antibody positivity
http://purl.obolibrary.org/obo/UBERON_0001846internal ear
http://purl.obolibrary.org/obo/UBERON_0001849membranous labyrinth
http://purl.obolibrary.org/obo/UBERON_0001848auricular cartilage
HP:0032262Pulmonary tuberculosis
HP:0032269Lemon sign
HP:0032268Dural tail sign
HP:0032267Empty delta sign
HP:0010303Abnormal spinal meningeal morphology
HP:0032266CSF anti-NMDA receptor antibody positivity
HP:0032265CSF autoimmune antibody positivity
http://purl.obolibrary.org/obo/UBERON_0001840semicircular canal
HP:0032261Nontuberculous mycobacterial pulmonary infection
http://purl.obolibrary.org/obo/UBERON_0001844cochlea
http://purl.obolibrary.org/obo/NBO_0000317vestibular behavior
http://purl.obolibrary.org/obo/NBO_0000327somatic sensation related behavior
HP:0032254Increased circulating copper concentration
HP:0010836Abnormal circulating copper concentration
HP:0032253Eosinophilic granuloma
HP:0032252Granuloma
HP:0032258Pulmonary histoplasmosis
HP:0032257Disseminated histoplasmosis
HP:0032256Histoplasmosis
HP:0032255Opportunistic fungal infection
http://purl.obolibrary.org/obo/UBERON_0001850lacrimal drainage system
HP:0032250Acinetobacter infection
http://purl.obolibrary.org/obo/UBERON_0001855cochlear duct of membranous labyrinth
http://purl.obolibrary.org/obo/NBO_0000304memory loss behavior
http://purl.obolibrary.org/obo/NBO_0000170memory behavior
http://purl.obolibrary.org/obo/NBO_0000006learning and/or memory behavior
HP:0032259Chronic tinea infection
HP:0031035Chronic infection
http://www.informatics.jax.org/marker/MGI:87951Afp (mouse)
http://purl.obolibrary.org/obo/UBERON_0001803epithelium of lens
http://purl.obolibrary.org/obo/UBERON_0001802posterior segment of eyeball
http://purl.obolibrary.org/obo/UBERON_0001804capsule of lens
http://purl.obolibrary.org/obo/UBERON_0001806sympathetic ganglion
http://purl.obolibrary.org/obo/UBERON_0001809enteric ganglion
http://purl.obolibrary.org/obo/UBERON_0001801anterior segment of eyeball
HP:0032298Increased circulating IgG1 level
http://purl.obolibrary.org/obo/UBERON_0001814brachial nerve plexus
HP:0032297Increased circulating IgG3 level
http://purl.obolibrary.org/obo/UBERON_0001816autonomic nerve plexus
http://purl.obolibrary.org/obo/UBERON_0001815lumbosacral nerve plexus
HP:0032295Monoclonal elevation of IgG lambda chain
http://purl.obolibrary.org/obo/UBERON_0001818tarsal gland
http://purl.obolibrary.org/obo/UBERON_0001817lacrimal gland
http://purl.obolibrary.org/obo/UBERON_0001819palpebral fissure
HP:0032299Increased circulating IgG2 level
HP:0032294Monoclonal elevation of IgG kappa chain
HP:0032293Monoclonal elevation of IgG heavy chain
http://purl.obolibrary.org/obo/UBERON_0001812palpebral conjunctiva
http://purl.obolibrary.org/obo/UBERON_0010305subdivision of conjunctiva
HP:0032292Monoclonal elevation of IgG light chain
http://purl.obolibrary.org/obo/UBERON_0001811conjunctiva
HP:0032291Monoclonal elevation of intact IgG
HP:0032290Monoclonal elevation of IgG
http://purl.obolibrary.org/obo/NBO_0000259psychotic disorder
http://purl.obolibrary.org/obo/NBO_0000258bipolar disorder
http://purl.obolibrary.org/obo/GO_0010186positive regulation of cellular defense response
http://purl.obolibrary.org/obo/GO_0031349positive regulation of defense response
http://purl.obolibrary.org/obo/GO_0010185regulation of cellular defense response
http://purl.obolibrary.org/obo/GO_0031347regulation of defense response
http://purl.obolibrary.org/obo/GO_0061727methylglyoxal catabolic process to lactate
http://purl.obolibrary.org/obo/GO_0051596methylglyoxal catabolic process
http://purl.obolibrary.org/obo/NBO_0000248obsessive-compulsive disorder
http://purl.obolibrary.org/obo/NBO_0000246phobia
http://purl.obolibrary.org/obo/NBO_0000244pathological anxiety
http://purl.obolibrary.org/obo/CHEBI_83563long-chain alkane
http://purl.obolibrary.org/obo/CHEBI_18310alkane
http://purl.obolibrary.org/obo/CHEBI_33653aliphatic compound
http://purl.obolibrary.org/obo/UBERON_0035198superficial lymphatic vessel
http://purl.obolibrary.org/obo/GO_0048732gland development
http://purl.obolibrary.org/obo/GO_0048736appendage development
http://purl.obolibrary.org/obo/GO_0048738cardiac muscle tissue development
http://purl.obolibrary.org/obo/GO_0014706striated muscle tissue development
http://purl.obolibrary.org/obo/GO_0060537muscle tissue development
http://purl.obolibrary.org/obo/GO_0048729tissue morphogenesis
http://purl.obolibrary.org/obo/NBO_0000268dementia
http://purl.obolibrary.org/obo/NBO_0000265personality disorder
http://www.informatics.jax.org/marker/MGI:99782Nt5e (mouse)
http://purl.obolibrary.org/obo/GO_0048714positive regulation of oligodendrocyte differentiation
http://purl.obolibrary.org/obo/GO_0045687positive regulation of glial cell differentiation
http://purl.obolibrary.org/obo/GO_0014015positive regulation of gliogenesis
http://purl.obolibrary.org/obo/GO_0050769positive regulation of neurogenesis
http://purl.obolibrary.org/obo/GO_0051962positive regulation of nervous system development
http://purl.obolibrary.org/obo/GO_0048715negative regulation of oligodendrocyte differentiation
http://purl.obolibrary.org/obo/GO_0045686negative regulation of glial cell differentiation
http://purl.obolibrary.org/obo/GO_0014014negative regulation of gliogenesis
http://purl.obolibrary.org/obo/GO_0050768negative regulation of neurogenesis
http://purl.obolibrary.org/obo/GO_0051961negative regulation of nervous system development
http://purl.obolibrary.org/obo/GO_0048713regulation of oligodendrocyte differentiation
http://purl.obolibrary.org/obo/GO_0045685regulation of glial cell differentiation
http://purl.obolibrary.org/obo/GO_0014013regulation of gliogenesis
http://purl.obolibrary.org/obo/GO_0050767regulation of neurogenesis
http://purl.obolibrary.org/obo/GO_0051960regulation of nervous system development
http://purl.obolibrary.org/obo/GO_0048709oligodendrocyte differentiation
http://purl.obolibrary.org/obo/GO_0010001glial cell differentiation
http://purl.obolibrary.org/obo/GO_0048705skeletal system morphogenesis
http://purl.obolibrary.org/obo/NBO_0000233motivation behavior
http://purl.obolibrary.org/obo/UBERON_0035132auditory ossicle pre-cartilage element
http://purl.obolibrary.org/obo/UBERON_0035131auditory ossicle cartilage element
http://purl.obolibrary.org/obo/UBERON_0035133longitudinal arch of pes
http://purl.obolibrary.org/obo/GO_0046185aldehyde catabolic process
http://purl.obolibrary.org/obo/GO_0097722sperm motility
HP:0007421Telangiectases of the cheeks
HP:0007420Spontaneous hematomas
HP:0001933Subcutaneous hemorrhage
HP:0007427Reticulated skin pigmentation
http://purl.obolibrary.org/obo/UBERON_0035139anterior nasal spine of maxilla
http://purl.obolibrary.org/obo/UBERON_0011189lamina propria of large intestine
HP:0007425Hyperextensible skin of face
http://purl.obolibrary.org/obo/PR_P16872interleukin-7 receptor subunit alpha (mouse)
HP:0007429Few cafe-au-lait spots
HP:0007428Telangiectasia of the oral mucosa
HP:0000228Oral cavity telangiectasia
HP:0100579Mucosal telangiectasiae
http://purl.obolibrary.org/obo/UBERON_0011198muscle layer of large intestine
http://purl.obolibrary.org/obo/UBERON_0012367muscle layer of intestine
http://purl.obolibrary.org/obo/UBERON_0018261muscular coat of digestive tract
http://purl.obolibrary.org/obo/UBERON_0006660muscular coat
http://purl.obolibrary.org/obo/UBERON_0011197parathyroid epithelium
http://purl.obolibrary.org/obo/UBERON_0006799glandular epithelium
http://purl.obolibrary.org/obo/GO_0009101glycoprotein biosynthetic process
http://purl.obolibrary.org/obo/GO_0009100glycoprotein metabolic process
HP:0007430Generalized edema
HP:0007434Plaque-like facial hemangioma
HP:0007432Intermittent generalized erythematous papular rash
HP:0007438Mottled pigmentation of the trunk and proximal extremities
HP:0007437Multiple cutaneous leiomyomas
http://purl.obolibrary.org/obo/GO_0097712vesicle targeting, trans-Golgi to periciliary membrane compartment
http://purl.obolibrary.org/obo/GO_0048199vesicle targeting, to, from or within Golgi
http://purl.obolibrary.org/obo/GO_0006903vesicle targeting
HP:0007436Hair-nail ectodermal dysplasia
HP:0007435Diffuse palmoplantar keratoderma
http://purl.obolibrary.org/obo/UBERON_0035127suture of hard palate
HP:0007439Generalized keratosis follicularis
http://purl.obolibrary.org/obo/UBERON_0035110lateral plantar nerve
http://purl.obolibrary.org/obo/UBERON_0035111medial plantar nerve
HP:0007443Partial albinism
http://purl.obolibrary.org/obo/UBERON_0035118material entity in digestive tract
HP:0007449Confetti-like hypopigmented macules
http://purl.obolibrary.org/obo/UBERON_0035117diastema between lower central incisors
HP:0007448Hyperkeratosis over edematous areas
HP:0007447Diffuse palmoplantar hyperkeratosis
HP:0007446Palmoplantar blistering
http://purl.obolibrary.org/obo/UBERON_0035116diastema between upper central incisors
http://purl.obolibrary.org/obo/UBERON_0035115diastema between central incisors
http://purl.obolibrary.org/obo/UBERON_0035119diastema between incisors
http://purl.obolibrary.org/obo/UBERON_0012111diastema
http://purl.obolibrary.org/obo/GO_0000790nuclear chromatin
http://purl.obolibrary.org/obo/GO_0000791euchromatin
http://purl.obolibrary.org/obo/GO_0000792heterochromatin
HP:0007452Midface capillary hemangioma
HP:0007451Ipsilateral lack of facial sweating
http://purl.obolibrary.org/obo/GO_0000789cytoplasmic chromatin
HP:0007450Increased groin pigmentation with raindrop depigmentation
HP:0007456Progressive reticulate hyperpigmentation
HP:0007455Adermatoglyphia
http://purl.obolibrary.org/obo/GO_0000785chromatin
HP:0007453Flexural lichenification
HP:0100725Lichenification
http://purl.obolibrary.org/obo/GO_0046148pigment biosynthetic process
http://purl.obolibrary.org/obo/UBERON_0035106raphe of perineum
HP:0007459Generalized anhidrosis
http://purl.obolibrary.org/obo/GO_0097734extracellular exosome biogenesis
http://purl.obolibrary.org/obo/UBERON_0035109plantar nerve
HP:0007458Focal hyperextensible skin
HP:0000974Hyperextensible skin
HP:0007457Prominent veins on trunk
http://purl.obolibrary.org/obo/UBERON_0035102transverse process of caudal vertebra
http://purl.obolibrary.org/obo/UBERON_0035105sac of scrotum
http://purl.obolibrary.org/obo/GO_0009150purine ribonucleotide metabolic process
http://purl.obolibrary.org/obo/GO_0006163purine nucleotide metabolic process
http://purl.obolibrary.org/obo/GO_0009259ribonucleotide metabolic process
http://purl.obolibrary.org/obo/GO_0009117nucleotide metabolic process
http://purl.obolibrary.org/obo/UBERON_0011143upper urinary tract
HP:0032401Aspartic aciduria
http://purl.obolibrary.org/obo/UBERON_0011142axial ossicle
HP:0032400Dysgyria with thickened cortex
http://purl.obolibrary.org/obo/UBERON_0035174right ear
http://purl.obolibrary.org/obo/UBERON_0011141appendicular ossicle
http://purl.obolibrary.org/obo/PR_O43490prominin-1 (human)
http://purl.obolibrary.org/obo/PR_000001786prominin-1
http://purl.obolibrary.org/obo/PR_000001785prominin
http://purl.obolibrary.org/obo/GO_0046137negative regulation of vitamin metabolic process
HP:0032405Increased urinary phosphoserine level
http://purl.obolibrary.org/obo/GO_0048799animal organ maturation
http://purl.obolibrary.org/obo/GO_0046136positive regulation of vitamin metabolic process
HP:0032404Testicular mass
HP:0032403Asparaginuria
http://purl.obolibrary.org/obo/UBERON_0011144adductor muscle of hip
http://purl.obolibrary.org/obo/UBERON_0011145adductor muscle
HP:0032408Breast mass
HP:0032407Bilateral perisylvian polymicrogyria
HP:0032406Unilateral perisylvian polymicrogyria
HP:0012650Perisylvian polymicrogyria
http://purl.obolibrary.org/obo/UBERON_0035165posterior surface of prostate
http://purl.obolibrary.org/obo/UBERON_0035480surface of prostate
http://purl.obolibrary.org/obo/UBERON_0011152dorsal hyoid arch skeleton
http://purl.obolibrary.org/obo/GO_1901534positive regulation of hematopoietic progenitor cell differentiation
http://purl.obolibrary.org/obo/GO_1903708positive regulation of hemopoiesis
http://purl.obolibrary.org/obo/GO_1901533negative regulation of hematopoietic progenitor cell differentiation
http://purl.obolibrary.org/obo/GO_1901532regulation of hematopoietic progenitor cell differentiation
http://purl.obolibrary.org/obo/GO_1903707negative regulation of hemopoiesis
http://purl.obolibrary.org/obo/GO_1903706regulation of hemopoiesis
http://purl.obolibrary.org/obo/GO_0034101erythrocyte homeostasis
http://purl.obolibrary.org/obo/GO_0002262myeloid cell homeostasis
http://purl.obolibrary.org/obo/GO_0048872homeostasis of number of cells
http://purl.obolibrary.org/obo/UBERON_0011156facial skeleton
http://purl.obolibrary.org/obo/NBO_0000280attraction-related behavior
http://purl.obolibrary.org/obo/UBERON_0011160nasal suture
http://purl.obolibrary.org/obo/UBERON_0009199facial suture
http://purl.obolibrary.org/obo/GO_0009179purine ribonucleoside diphosphate metabolic process
http://purl.obolibrary.org/obo/GO_0009185ribonucleoside diphosphate metabolic process
http://purl.obolibrary.org/obo/GO_0009135purine nucleoside diphosphate metabolic process
http://purl.obolibrary.org/obo/GO_0009132nucleoside diphosphate metabolic process
http://purl.obolibrary.org/obo/GO_0006753nucleoside phosphate metabolic process
http://purl.obolibrary.org/obo/GO_0034109homotypic cell-cell adhesion
HP:0007401Macular atrophy
HP:0000608Macular degeneration
http://purl.obolibrary.org/obo/GO_0034111negative regulation of homotypic cell-cell adhesion
HP:0007404Nonepidermolytic palmoplantar keratoderma
HP:0007403Hypertrophy of skin of soles
HP:0007402Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
HP:0007408Tegumentary leishmaniasis susceptibility
HP:0007407Excessive skin wrinkling on dorsum of hands and fingers
http://purl.obolibrary.org/obo/UBERON_0035159entire surface of organism
http://purl.obolibrary.org/obo/UBERON_0006984anatomical surface
http://purl.obolibrary.org/obo/UBERON_0010199bona-fide anatomical boundary
HP:0007406Hyperpigmentation of eyelids
http://purl.obolibrary.org/obo/GO_0048770pigment granule
http://purl.obolibrary.org/obo/GO_0046110xanthine metabolic process
http://purl.obolibrary.org/obo/GO_0006144purine nucleobase metabolic process
http://purl.obolibrary.org/obo/GO_0072521purine-containing compound metabolic process
http://purl.obolibrary.org/obo/GO_0009112nucleobase metabolic process
http://purl.obolibrary.org/obo/GO_0055086nucleobase-containing small molecule metabolic process
HP:0007412Macular hyperpigmented dermopathy
HP:0007411Hypoplastic-absent sebaceous glands
HP:0007410Palmoplantar hyperhidrosis
HP:0006089Palmar hyperhidrosis
HP:0000975Hyperhidrosis
HP:0007414Neonatal wrinkled skin of hands and feet
HP:0007413Nevus flammeus of the forehead
HP:0007417Discoid lupus rash
HP:0032320Affected
http://purl.obolibrary.org/obo/UBERON_0013760external cervical os
HP:0032324Non-periodic recurrent fever
http://purl.obolibrary.org/obo/UBERON_0013761cervical cavity
HP:0032323Periodic fever
HP:0001954Recurrent fever
HP:0032322Healthy
HP:0032321Unaffected
http://purl.obolibrary.org/obo/UBERON_0001783optic disc
http://purl.obolibrary.org/obo/UBERON_0001786fovea centralis
http://purl.obolibrary.org/obo/UBERON_0001788outer limiting layer of retina
http://purl.obolibrary.org/obo/UBERON_0001787photoreceptor layer of retina
http://www.informatics.jax.org/marker/MGI:1922725Oplah (mouse)
http://purl.obolibrary.org/obo/UBERON_0001789outer nuclear layer of retina
HP:0007390Hyperkeratosis with erythema
HP:0007384Aberrant melanosome maturation
http://purl.obolibrary.org/obo/UBERON_0001782pigmented layer of retina
http://purl.obolibrary.org/obo/UBERON_0000957lamina
HP:0032328Temporomandibular joint adhesion
HP:0010754Abnormality of the temporomandibular joint
HP:0032327Interhemispheric cyst
HP:0012703Abnormal subarachnoid space morphology
HP:0032326Methicillin-resistant Staphylococcus aureus infection
HP:0032260Opportunistic bacterial infection
http://purl.obolibrary.org/obo/UBERON_0013769uterine lumen
http://purl.obolibrary.org/obo/UBERON_0002558organ cavity
http://purl.obolibrary.org/obo/UBERON_0013766epicanthal fold
http://purl.obolibrary.org/obo/UBERON_0011104epiphysis of fifth metacarpal bone
http://purl.obolibrary.org/obo/UBERON_0013767frontal process of maxilla
HP:0032329Increased urinary 11-deoxycortisol level
http://purl.obolibrary.org/obo/UBERON_0011110humeroulnar joint
http://purl.obolibrary.org/obo/UBERON_0013771line connecting laterally paired nipples
HP:0032313Frontotemporal hypertrichosis
HP:0002219Facial hypertrichosis
HP:0000998Hypertrichosis
http://purl.obolibrary.org/obo/UBERON_0013772left nipple
HP:0032310Granulocytosis
http://purl.obolibrary.org/obo/UBERON_0001795inner plexiform layer of retina
http://purl.obolibrary.org/obo/UBERON_0001794inner limiting layer of retina
http://purl.obolibrary.org/obo/UBERON_0007619limiting membrane of retina
http://purl.obolibrary.org/obo/UBERON_0001797vitreous humor
http://purl.obolibrary.org/obo/UBERON_0001796aqueous humor of eyeball
http://purl.obolibrary.org/obo/UBERON_0006312ocular refractive media
http://purl.obolibrary.org/obo/UBERON_0001799vitreous chamber of eyeball
http://purl.obolibrary.org/obo/UBERON_0001798vitreous body
HP:0007397Axillary apocrine gland hypoplasia
HP:0007396Early cutaneous photosensitivity
HP:0007395Postnatal-onset ichthyosiform erythroderma
http://purl.obolibrary.org/obo/UBERON_0011119carpometacarpal joint
http://purl.obolibrary.org/obo/UBERON_0001791inner nuclear layer of retina
http://purl.obolibrary.org/obo/UBERON_0001790outer plexiform layer of retina
http://purl.obolibrary.org/obo/UBERON_0001793nerve fiber layer of retina
http://purl.obolibrary.org/obo/UBERON_0001792ganglionic layer of retina
HP:0007398Asymmetric, linear skin defects
HP:0032317Family history of cancer
http://purl.obolibrary.org/obo/UBERON_0013773right nipple
http://purl.obolibrary.org/obo/UBERON_0002030nipple
http://purl.obolibrary.org/obo/UBERON_0011112tibiofibular joint
http://purl.obolibrary.org/obo/UBERON_0002210syndesmosis
HP:0032315Areolar fullness
http://purl.obolibrary.org/obo/UBERON_0011111humeroradial joint
http://purl.obolibrary.org/obo/UBERON_0013774diaphysis of metatarsal bone
HP:0032314Abnormal areolar morphology
http://purl.obolibrary.org/obo/UBERON_0011118tarsometatarsal joint
http://purl.obolibrary.org/obo/UBERON_0013777skin of palm of manus
HP:0032319Health status
http://purl.obolibrary.org/obo/UBERON_0013778skin of sole of pes
http://purl.obolibrary.org/obo/UBERON_0013776skin of palmar/plantar part of autopod
HP:0032318Family history of heart disease
HP:0032316Family history
http://purl.obolibrary.org/obo/UBERON_0011121cricothyroid joint
HP:0032302Kappa Bence Jones proteinuria
HP:0032301Genital warts
HP:0200043Verrucae
HP:0032300Increased circulating IgG4 level
HP:0032296Increased circulating IgG subclass
HP:0032306Increased mannose-binding protein level
HP:0032305Decreased mannose-binding protein level
HP:0032304Abnormal mannose-binding protein level
http://purl.obolibrary.org/obo/UBERON_0011122cricoarytenoid joint
http://purl.obolibrary.org/obo/UBERON_0011120laryngeal joint
HP:0032303Lambda Bence Jones proteinuria
HP:0032308Increased circulating procalcitonin level
http://purl.obolibrary.org/obo/UBERON_0011132intercarpal joint
http://purl.obolibrary.org/obo/UBERON_0011131intermetacarpal joint
http://purl.obolibrary.org/obo/UBERON_0011130temporomandibular joint primordium
http://purl.obolibrary.org/obo/CHEBI_22558anhydro sugar
http://purl.obolibrary.org/obo/CHEBI_35381monosaccharide
http://purl.obolibrary.org/obo/UBERON_0011136ligament of vertebral column
http://purl.obolibrary.org/obo/UBERON_0011133intermetatarsal joint
http://purl.obolibrary.org/obo/UBERON_0011138postcranial axial skeletal system
http://purl.obolibrary.org/obo/UBERON_0011137axial skeletal system
http://purl.obolibrary.org/obo/UBERON_0001748capsule of parathyroid gland
http://purl.obolibrary.org/obo/UBERON_0001747parenchyma of thyroid gland
HP:0032363Decreased circulating corticosterone level
HP:0032362Increased circulating corticosterone level
HP:0012112Abnormal circulating corticosterone level
http://purl.obolibrary.org/obo/UBERON_0001749parenchyma of parathyroid gland
HP:0032361Decreased post-bronchodilator forced expiratory flow 25-75%
HP:0010992Stress urinary incontinence
HP:0000020Urinary incontinence
HP:0032367Abnormal growth hormone level
HP:0032366Positive direct antiglobulin test
HP:0032365Exacerbated by aspirin ingestion
http://purl.obolibrary.org/obo/UBERON_0001740arytenoid cartilage
http://purl.obolibrary.org/obo/UBERON_0001742epiglottic cartilage
http://purl.obolibrary.org/obo/CHEBI_22587antiviral agent
http://purl.obolibrary.org/obo/CHEBI_33281antimicrobial agent
HP:0032360Decreased pre-bronchodilator forced expiratory flow 25-75%
http://purl.obolibrary.org/obo/UBERON_0001746capsule of thyroid gland
http://purl.obolibrary.org/obo/UBERON_0001745secondary nodular lymphoid tissue
HP:0007341Diffuse swelling of cerebral white matter
HP:0007340Lower limb muscle weakness
http://purl.obolibrary.org/obo/UBERON_0013727notochordal fluid
HP:0007346Subcortical white matter calcifications
HP:0007344Atrophy/Degeneration involving the spinal cord
http://purl.obolibrary.org/obo/UBERON_0013720dartos muscle of labia majora
http://purl.obolibrary.org/obo/UBERON_0013721deep inguinal ring
http://purl.obolibrary.org/obo/UBERON_0006674inguinal ring
HP:0010997Chromosomal breakage induced by ionizing radiation
HP:0007348Hypoplasia of the pyramidal tract
HP:0010998Increased susceptibility to spontaneous sister chromatid exchange
HP:0010999Aplasia of the optic tract
HP:0011000Aplasia/Hypoplasia of the optic tract
HP:0032369Alkalemia
http://purl.obolibrary.org/obo/UBERON_0001759vagus nerve
HP:0032353Leucinuria
http://purl.obolibrary.org/obo/UBERON_0001758periodontium
HP:0032352Methioninuria
HP:0032351Phenylalaninuria
HP:0032350Sulfocysteinuria
http://purl.obolibrary.org/obo/GO_1901495negative regulation of cysteine metabolic process
http://purl.obolibrary.org/obo/GO_0031336negative regulation of sulfur amino acid metabolic process
http://purl.obolibrary.org/obo/GO_0051175negative regulation of sulfur metabolic process
http://purl.obolibrary.org/obo/GO_0045763negative regulation of cellular amino acid metabolic process
http://purl.obolibrary.org/obo/GO_0033239negative regulation of cellular amine metabolic process
http://purl.obolibrary.org/obo/GO_0062014negative regulation of small molecule metabolic process
HP:0032357Decreased post-bronchodilator forced vital capacity
HP:0032356Decreased pre-bronchodilator forced vital capacity
HP:0032355Decreased peak expiratory flow
http://purl.obolibrary.org/obo/GO_1901496positive regulation of cysteine metabolic process
http://purl.obolibrary.org/obo/GO_0031337positive regulation of sulfur amino acid metabolic process
http://purl.obolibrary.org/obo/GO_0051176positive regulation of sulfur metabolic process
http://purl.obolibrary.org/obo/GO_0045764positive regulation of cellular amino acid metabolic process
http://purl.obolibrary.org/obo/GO_0033240positive regulation of cellular amine metabolic process
http://purl.obolibrary.org/obo/GO_1901494regulation of cysteine metabolic process
http://purl.obolibrary.org/obo/GO_0031335regulation of sulfur amino acid metabolic process
http://purl.obolibrary.org/obo/GO_0042762regulation of sulfur metabolic process
http://purl.obolibrary.org/obo/GO_0006521regulation of cellular amino acid metabolic process
http://purl.obolibrary.org/obo/GO_0033238regulation of cellular amine metabolic process
http://purl.obolibrary.org/obo/UBERON_0001751dentine
http://purl.obolibrary.org/obo/UBERON_0001750lacrimal apparatus
http://purl.obolibrary.org/obo/UBERON_0001753cementum
http://purl.obolibrary.org/obo/UBERON_0001752enamel
http://purl.obolibrary.org/obo/UBERON_0010365odontoid tissue
http://purl.obolibrary.org/obo/UBERON_4000013mineralized skeletal tissue
HP:0007360Aplasia/Hypoplasia of the cerebellum
http://purl.obolibrary.org/obo/UBERON_0001757pinna
http://purl.obolibrary.org/obo/UBERON_0001756middle ear
HP:0007352Cerebellar calcifications
HP:0007351Upper limb postural tremor
HP:0200085Limb tremor
HP:0002174Postural tremor
HP:0007350Hyperreflexia in upper limbs
HP:0001347Hyperreflexia
HP:0007354Amyotrophic lateral sclerosis
HP:0032359Decreased forced expiratory flow 25-75%
HP:0032358Decreased post-bronchodilator forced expiratory volume in one second
HP:0032342Reduced forced expiratory volume in one second
http://purl.obolibrary.org/obo/UBERON_0001769iris
HP:0032341Reduced forced vital capacity
HP:0032346Cutaneous lichen amyloidosis
HP:0032345Elevated cancer Ag 19-9 level
HP:0032344Upslanting toenail
http://purl.obolibrary.org/obo/UBERON_0001764maxillary sinus
http://purl.obolibrary.org/obo/UBERON_0001766anterior chamber of eyeball
http://purl.obolibrary.org/obo/UBERON_0006311chamber of eyeball
HP:0007371Corpus callosum atrophy
HP:0012762Cerebral white matter atrophy
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0001273Abnormal corpus callosum morphology
HP:0012429Aplasia/Hypoplasia of the cerebral white matter
http://purl.obolibrary.org/obo/UBERON_0001765mammary duct
http://purl.obolibrary.org/obo/UBERON_0001768uvea
HP:0007363Aplasia/Hypoplasia of the pyramidal tract
http://purl.obolibrary.org/obo/UBERON_0013748ulnar metaphysis
HP:0007362Aplasia/Hypoplasia of the brainstem
http://purl.obolibrary.org/obo/UBERON_0013749metaphysis of humerus
http://purl.obolibrary.org/obo/UBERON_0001760frontal sinus
HP:0007365Aplasia/Hypoplasia involving the corticospinal tracts
http://purl.obolibrary.org/obo/GO_0061696pituitary gonadotropin complex
HP:0032349Serinuria
http://purl.obolibrary.org/obo/GO_0061695transferase complex, transferring phosphorus-containing groups
http://purl.obolibrary.org/obo/GO_1990234transferase complex
http://purl.obolibrary.org/obo/GO_1902494catalytic complex
HP:0032348Cutaneous nodular amyloidosis
HP:0032347Cutaneous macular amyloidosis
HP:0012309Cutaneous amyloidosis
HP:0032331Increased urinary 11-deoxytetrahydrocorticosterone level
HP:0032330Increased urinary 11-deoxycorticosterone level
HP:0032335Monoclonal elevation of circulating IgA
http://purl.obolibrary.org/obo/UBERON_0013750metaphysis of tibia
HP:0032334Oligoclonal elevation of circulating IgA
HP:0032333Polyclonal elevation of circulating IgA
HP:0032332Oligoclonal elevation of circulating IgM
http://purl.obolibrary.org/obo/UBERON_0001773sclera
http://purl.obolibrary.org/obo/UBERON_0001772corneal epithelium
http://purl.obolibrary.org/obo/UBERON_0001775ciliary body
http://purl.obolibrary.org/obo/UBERON_0001777substantia propria of cornea
http://purl.obolibrary.org/obo/UBERON_0001776optic choroid
http://purl.obolibrary.org/obo/UBERON_0002203vasculature of eye
http://purl.obolibrary.org/obo/UBERON_0002200vasculature of head
HP:0007381Congenital exfoliative erythroderma
HP:0001019Erythroderma
http://purl.obolibrary.org/obo/UBERON_0001779iris stroma
http://purl.obolibrary.org/obo/UBERON_0001778ciliary epithelium
http://purl.obolibrary.org/obo/UBERON_0000488atypical epithelium
HP:0007374Atrophy/Degeneration involving the caudate nucleus
HP:0002339Abnormal caudate nucleus morphology
HP:0007373Motor neuron atrophy
HP:0002450Abnormal motor neuron morphology
HP:0007372Atrophy/Degeneration involving the corticospinal tracts
HP:0002492Morphological abnormality of the corticospinal tract
HP:0002062Morphological abnormality of the pyramidal tract
HP:0007377Abnormality of somatosensory evoked potentials
http://purl.obolibrary.org/obo/UBERON_0001771pupil
http://purl.obolibrary.org/obo/UBERON_0013753distal epiphysis of metacarpal bone
http://purl.obolibrary.org/obo/UBERON_0004390epiphysis of metacarpal bone
HP:0032339Polyclonal elevation of circulating IgE
http://purl.obolibrary.org/obo/UBERON_0013754integumentary system layer
HP:0032338Oligoclonal elevation of circulating IgE
http://purl.obolibrary.org/obo/UBERON_0013751metaphysis of radius
HP:0032337Monoclonal elevation of circulating IgE
http://purl.obolibrary.org/obo/UBERON_0013752diaphysis of metacarpal bone
http://purl.obolibrary.org/obo/UBERON_0013757capillary blood
http://purl.obolibrary.org/obo/UBERON_0013758cervical os
http://purl.obolibrary.org/obo/UBERON_0013755arterial blood
http://purl.obolibrary.org/obo/UBERON_0013756venous blood
http://purl.obolibrary.org/obo/UBERON_0000178blood
http://purl.obolibrary.org/obo/UBERON_0000179haemolymphatic fluid
http://purl.obolibrary.org/obo/CHEBI_7896hexadecanoate
http://purl.obolibrary.org/obo/CHEBI_78123fatty acid anion 16:0
http://purl.obolibrary.org/obo/CHEBI_76619omega-methyl fatty acid anion
http://purl.obolibrary.org/obo/CHEBI_57560long-chain fatty acid anion
http://purl.obolibrary.org/obo/UBERON_0001703neurocranium
http://purl.obolibrary.org/obo/UBERON_0011158primary subdivision of skull
http://purl.obolibrary.org/obo/UBERON_0001706nasal septum
http://purl.obolibrary.org/obo/UBERON_0001705nail
http://purl.obolibrary.org/obo/UBERON_0009564distal limb integumentary appendage
http://purl.obolibrary.org/obo/UBERON_0001708jaw skeleton
http://purl.obolibrary.org/obo/UBERON_0001707nasal cavity
http://purl.obolibrary.org/obo/UBERON_0001709upper jaw region
http://purl.obolibrary.org/obo/UBERON_0001700geniculate ganglion
http://purl.obolibrary.org/obo/UBERON_0001702eyelash
http://purl.obolibrary.org/obo/UBERON_0001715oculomotor nuclear complex
http://purl.obolibrary.org/obo/UBERON_0019267gray matter of midbrain
http://purl.obolibrary.org/obo/UBERON_0007245nuclear complex of neuraxis
HP:0032397Citrullinuria
HP:0032396Transmantle columnar heterotopia
HP:0032395Curvilinear subcortical heterotopia
HP:0032394Mesial parasagittal subcortical heterotopia
http://purl.obolibrary.org/obo/UBERON_0001716secondary palate
http://purl.obolibrary.org/obo/UBERON_0007375roof of mouth
HP:0032399Dysgyria with normal cortical thickness
HP:0032398Dysgyria
HP:0032393Diffuse ribbon-like subcortical heterotopia
http://purl.obolibrary.org/obo/UBERON_0001710lower jaw region
HP:0032392Nodular subcortical heterotopia in peritrigonal regions
http://purl.obolibrary.org/obo/UBERON_0001713lower eyelid
http://purl.obolibrary.org/obo/UBERON_0001712upper eyelid
http://purl.obolibrary.org/obo/UBERON_0001711eyelid
HP:0032390Periventricular ribbonlike heterotopia
http://purl.obolibrary.org/obo/UBERON_0001726papilla of tongue
HP:0032386Elevated transferrin level
http://purl.obolibrary.org/obo/UBERON_0001725cranial synchondrosis
http://purl.obolibrary.org/obo/UBERON_0002215synchondrosis
HP:0032384Uniparental isodisomy
http://purl.obolibrary.org/obo/UBERON_0001728nasopharynx
http://purl.obolibrary.org/obo/UBERON_0001727taste bud
HP:0032383Uniparental heterodisomy
HP:0032389Periventricular laminar heterotopia
HP:0032388Periventricular nodular heterotopia
HP:0007165Periventricular heterotopia
HP:0032387Reduced transferrin level
HP:0032385Abnormal circulating transferrin level
HP:0025465Abnormal circulating beta globulin level
http://purl.obolibrary.org/obo/UBERON_0001720cochlear nucleus
http://purl.obolibrary.org/obo/UBERON_0007635nucleus of medulla oblongata
http://purl.obolibrary.org/obo/UBERON_0009662hindbrain nucleus
http://purl.obolibrary.org/obo/UBERON_0006331brainstem nucleus
HP:0032382Uniparental disomy
HP:0000005Mode of inheritance
HP:0032381Hydroa vacciniforme
http://purl.obolibrary.org/obo/UBERON_0001724sphenoidal sinus
http://purl.obolibrary.org/obo/UBERON_0001825paranasal sinus
http://purl.obolibrary.org/obo/UBERON_0001723tongue
http://purl.obolibrary.org/obo/UBERON_0013704notochordal canal
http://purl.obolibrary.org/obo/UBERON_0013705fascia of Scarpa
http://purl.obolibrary.org/obo/UBERON_0013702body proper
http://purl.obolibrary.org/obo/UBERON_0013700axial musculature
http://purl.obolibrary.org/obo/UBERON_0013701main body axis
http://purl.obolibrary.org/obo/UBERON_0001737larynx
HP:0032375Duffy Fyb positivity
http://purl.obolibrary.org/obo/UBERON_0001736submandibular gland
http://purl.obolibrary.org/obo/UBERON_0001829major salivary gland
HP:0032374Duffy Fya positivity
HP:0032373Duffy blood group
http://purl.obolibrary.org/obo/UBERON_0001738thyroid cartilage
http://purl.obolibrary.org/obo/UBERON_0001739laryngeal cartilage
HP:0032372Increased peripheral blast count
HP:0032379Polymorphous light eruption
HP:0032378Immediate-type hypersensitivity drug reaction
HP:0032377Increased urinary orosomucoid
HP:0032376Anti-beta 2 glycoprotein I antibody positivity
http://purl.obolibrary.org/obo/UBERON_0001731cavity of pharynx
http://purl.obolibrary.org/obo/UBERON_0001733soft palate
HP:0032371Isoleucinuria
http://purl.obolibrary.org/obo/UBERON_0001732pharyngeal tonsil
http://purl.obolibrary.org/obo/UBERON_0012330nasal-associated lymphoid tissue
http://purl.obolibrary.org/obo/UBERON_0002372tonsil
HP:0032370Blood group A
http://purl.obolibrary.org/obo/UBERON_0001735tonsillar ring
http://purl.obolibrary.org/obo/UBERON_0001962gut-associated lymphoid tissue
http://purl.obolibrary.org/obo/UBERON_0001961mucosa-associated lymphoid tissue
http://purl.obolibrary.org/obo/UBERON_0012069epithelium-associated lymphoid tissue
http://purl.obolibrary.org/obo/UBERON_0001734palatine uvula
http://purl.obolibrary.org/obo/UBERON_0013719dartos muscle of scrotum
http://purl.obolibrary.org/obo/UBERON_0013718dartos muscle
http://purl.obolibrary.org/obo/CHEBI_10545electron
http://purl.obolibrary.org/obo/CHEBI_22527aminopurine
http://purl.obolibrary.org/obo/CHEBI_26401purines
http://purl.obolibrary.org/obo/CHEBI_35875imidazopyrimidine
http://purl.obolibrary.org/obo/PR_000048016PR:000048016 located_in GO:0005768
http://purl.obolibrary.org/obo/PR_P14784interleukin-2 receptor subunit beta (human)
http://purl.obolibrary.org/obo/PR_000018446interleukin-2 receptor subunit beta, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000048015PR:000048015 located_in GO:0005886
http://purl.obolibrary.org/obo/PR_P01589interleukin-2 receptor subunit alpha (human)
http://purl.obolibrary.org/obo/PR_000018444interleukin-2 receptor subunit alpha, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001380interleukin-2 receptor subunit alpha
http://purl.obolibrary.org/obo/UBERON_0035097iliocaudalis muscle
http://www.informatics.jax.org/marker/MGI:1100886Prom1 (mouse)
http://purl.obolibrary.org/obo/UBERON_0035096fascia of tail
http://purl.obolibrary.org/obo/UBERON_0035091extrinsic post-anal tail muscle
http://purl.obolibrary.org/obo/UBERON_0035083transverse process-bearing vertebra
http://purl.obolibrary.org/obo/GO_1901605alpha-amino acid metabolic process
http://purl.obolibrary.org/obo/GO_0006520cellular amino acid metabolic process
http://purl.obolibrary.org/obo/CHEBI_5931insulin (human)
http://purl.obolibrary.org/obo/CHEBI_145810insulin
http://purl.obolibrary.org/obo/UBERON_0035078parotid gland interlobular duct
http://purl.obolibrary.org/obo/UBERON_0035073duct of eccrine sweat gland
http://purl.obolibrary.org/obo/UBERON_0035074duct of apocrine sweat gland
http://purl.obolibrary.org/obo/PR_000048032PR:000048032 located_in GO:0005886
http://purl.obolibrary.org/obo/PR_P16871interleukin-7 receptor subunit alpha (human)
http://purl.obolibrary.org/obo/PR_000018559interleukin-7 receptor subunit alpha, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001869interleukin-7 receptor subunit alpha
http://purl.obolibrary.org/obo/PR_000048036PR:000048036 located_in GO:0005788
http://purl.obolibrary.org/obo/PR_000020310insulin, signal peptide removed form
http://purl.obolibrary.org/obo/PR_P01308insulin (human)
http://purl.obolibrary.org/obo/PR_000048027PR:000048027 located_in GO:0005886
http://purl.obolibrary.org/obo/PR_Q01344interleukin-5 receptor subunit alpha (human)
http://purl.obolibrary.org/obo/PR_000018555interleukin-5 receptor subunit alpha, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001867interleukin-5 receptor subunit alpha
http://purl.obolibrary.org/obo/PR_000048024PR:000048024 located_in GO:0005886
http://purl.obolibrary.org/obo/PR_P26951interleukin-3 receptor subunit alpha (human)
http://purl.obolibrary.org/obo/PR_000001865interleukin-3 receptor class 2 alpha chain
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13633ADIPOQ (human)
http://purl.obolibrary.org/obo/NBO_0000598dystonia
http://purl.obolibrary.org/obo/NBO_0000009locomotory behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000590ataxia
http://purl.obolibrary.org/obo/NBO_0000591motor coordination phenotype
http://purl.obolibrary.org/obo/NBO_0000229vestibular behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000589tremor
http://purl.obolibrary.org/obo/NBO_0000586opisthotonus
http://purl.obolibrary.org/obo/NBO_0000587tetanic spasm
http://purl.obolibrary.org/obo/NBO_0000588spasm
http://purl.obolibrary.org/obo/PATO_0002038non-degenerate
http://purl.obolibrary.org/obo/PATO_0002037degeneration
http://purl.obolibrary.org/obo/PATO_0002039biconcave
http://purl.obolibrary.org/obo/PATO_0002034undivided
http://purl.obolibrary.org/obo/PATO_0002040biconvex
http://purl.obolibrary.org/obo/PATO_0001355convex
http://purl.obolibrary.org/obo/PATO_0002043increased anterior-posterior diameter
http://purl.obolibrary.org/obo/PATO_0001714increased diameter
http://purl.obolibrary.org/obo/PATO_0000573increased length
http://purl.obolibrary.org/obo/PATO_0002042decreased anterior-posterior diameter
http://purl.obolibrary.org/obo/PATO_0001715decreased diameter
http://purl.obolibrary.org/obo/PATO_0000574decreased length
http://purl.obolibrary.org/obo/PATO_0000587decreased size
http://purl.obolibrary.org/obo/PATO_0000122length
http://purl.obolibrary.org/obo/PATO_0002041anterior-posterior diameter
http://purl.obolibrary.org/obo/PATO_0001334diameter
http://purl.obolibrary.org/obo/PATO_00017081-D extent
HP:0007544Piebaldism
HP:0007543Epidermal hyperkeratosis
HP:0007542Absent pigmentation of the ventral chest
HP:0007541Frontal cutaneous lipoma
HP:0007548Palmoplantar keratosis with erythema and scale
HP:0007546Linear hyperpigmentation
HP:0007545Congenital palmoplantar keratosis
HP:0007549Desquamation of skin soon after birth
http://purl.obolibrary.org/obo/PATO_0002026non-progressive
HP:0007554Confetti hypopigmentation pattern of lower leg skin
HP:0007553Congenital symmetrical palmoplantar keratosis
HP:0007552Abnormal subcutaneous fat tissue distribution
HP:0007559Localized epidermolytic hyperkeratosis
http://purl.obolibrary.org/obo/UBERON_0035006preputial swelling of female
http://purl.obolibrary.org/obo/UBERON_0035005preputial swelling of male
http://purl.obolibrary.org/obo/UBERON_0035004preputial swelling
http://purl.obolibrary.org/obo/UBERON_0011088ligament of knee joint
http://purl.obolibrary.org/obo/UBERON_0011085palatoquadrate arch
http://purl.obolibrary.org/obo/PATO_0002056decreased fragility
http://purl.obolibrary.org/obo/PATO_0002055increased fragility
http://purl.obolibrary.org/obo/PATO_0001362fragile
http://purl.obolibrary.org/obo/PATO_0001662fragility
HP:0007561Telangiectases in sun-exposed and nonexposed skin
HP:0007560Unusual dermatoglyphics
HP:0007566Index finger dermatoglyphic radial loop
HP:0007565Multiple cafe-au-lait spots
HP:0000957Cafe-au-lait spot
HP:0007569Generalized seborrheic dermatitis
HP:0001051Seborrheic dermatitis
http://purl.obolibrary.org/obo/GO_0010469regulation of signaling receptor activity
http://purl.obolibrary.org/obo/PR_000026631transmembrane emp24 domain-containing protein 1, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000016401transmembrane emp24 domain-containing protein 1
http://purl.obolibrary.org/obo/UBERON_0011093left pelvic girdle region
http://purl.obolibrary.org/obo/UBERON_0011092right pelvic girdle region
http://purl.obolibrary.org/obo/UBERON_0011096lacrimal nerve
http://purl.obolibrary.org/obo/PATO_0002049lateral and rotional curvature
http://purl.obolibrary.org/obo/PATO_0001787rotational curvature
http://purl.obolibrary.org/obo/GO_0034435cholesterol esterification
http://purl.obolibrary.org/obo/GO_0034434sterol esterification
http://purl.obolibrary.org/obo/GO_0034433steroid esterification
http://purl.obolibrary.org/obo/GO_0008202steroid metabolic process
http://purl.obolibrary.org/obo/UBERON_0011091skeleton of left pelvic girdle
http://purl.obolibrary.org/obo/PATO_0002044trapezoid
http://purl.obolibrary.org/obo/UBERON_0011090skeleton of right pelvic girdle
http://purl.obolibrary.org/obo/UBERON_0007832pelvic girdle skeleton
http://purl.obolibrary.org/obo/UBERON_0010719girdle skeleton
http://purl.obolibrary.org/obo/PATO_0002052decreased occurrence
HP:0007573Late onset atopic dermatitis
HP:0001047Atopic dermatitis
HP:0000964Eczema
http://purl.obolibrary.org/obo/PATO_0002051increased occurrence
http://purl.obolibrary.org/obo/PATO_0000057occurrence
HP:0007572Hyperpigmented streaks
HP:0007570Hyperkeratosis lenticularis perstans
HP:0007576Palmar neurofibromas
HP:0007574Generalized bronze hyperpigmentation
http://purl.obolibrary.org/obo/UBERON_0013680inner canthus of left eye
HP:0007509Patchy hypo- and hyperpigmentation
http://purl.obolibrary.org/obo/UBERON_0013683left dorsal thalamus
HP:0032522Ameliorated by immunosuppresion
http://purl.obolibrary.org/obo/UBERON_0013684right dorsal thalamus
http://purl.obolibrary.org/obo/UBERON_0004703dorsal thalamus
HP:0032521Self hugging
http://purl.obolibrary.org/obo/UBERON_0035053interlobular duct of salivary gland
HP:0032520Masseter muscular weakness
http://purl.obolibrary.org/obo/PATO_0002087bullet-shaped
HP:0007500Decreased number of sweat glands
http://purl.obolibrary.org/obo/UBERON_0013687pericranium
http://purl.obolibrary.org/obo/UBERON_0002515periosteum
HP:0007504Diffuse slow skin atrophy
HP:0032526Ameliorated by acetylcholinesterase inhibitor
http://purl.obolibrary.org/obo/UBERON_0013688tonsil germinal center
http://purl.obolibrary.org/obo/UBERON_0010754germinal center
HP:0007503Generalized ichthyosis
HP:0032525Aggravated by acetylcholinesterase inhibitor
http://purl.obolibrary.org/obo/UBERON_0011024extrinsic extensor muscle of manus
http://purl.obolibrary.org/obo/UBERON_0000311extensor muscle
http://purl.obolibrary.org/obo/UBERON_0004254forelimb zeugopod muscle
HP:0007502Follicular hyperkeratosis
HP:0032524Long thumb
http://purl.obolibrary.org/obo/UBERON_0013686anatomical conduit space
HP:0007501Streaks of hyperkeratosis along each finger onto the palm
HP:0032523Tendon thickening
HP:0007508Punctate palmar hyperkeratosis
HP:0032529Elevated circulating gamma-aminobutyric acid concentration
HP:0007506Congenital absence of skin of limbs
HP:0007383Congenital localized absence of skin
HP:0032528Elevated urinary 4-hydroxybutyric acid
HP:0007505Progressive hyperpigmentation
HP:0032527Inferiorly positioned umbilicus
http://purl.obolibrary.org/obo/UBERON_0013691buttock
http://purl.obolibrary.org/obo/UBERON_0035045parotid gland intralobular duct
http://purl.obolibrary.org/obo/UBERON_0014719intralobular duct
http://purl.obolibrary.org/obo/UBERON_0013694brain endothelium
HP:0032511Superiorly positioned umbilicus
HP:0001551Abnormal umbilicus morphology
http://purl.obolibrary.org/obo/UBERON_0013695colon endothelium
http://purl.obolibrary.org/obo/UBERON_0000397colonic epithelium
HP:0032510Tendon pain
http://purl.obolibrary.org/obo/GO_1901657glycosyl compound metabolic process
http://purl.obolibrary.org/obo/PATO_0002076movement behavioral quality
HP:0007511Mottled pigmentation of photoexposed areas
HP:0001070Mottled pigmentation
HP:0007510Focal dermal aplasia/hypoplasia
http://purl.obolibrary.org/obo/PATO_0002072decreased affinity
http://purl.obolibrary.org/obo/PATO_0002071increased affinity
http://purl.obolibrary.org/obo/UBERON_0013698strand of pubic hair
HP:0007515Hypoplastic pilosebaceous units
HP:0032515Deep dermatophytosis
http://purl.obolibrary.org/obo/UBERON_0013699strand of axillary hair
HP:0007514Edema of the dorsum of hands
HP:0032514Duplicated lacrimal punctum
http://purl.obolibrary.org/obo/UBERON_0013696tonsil epithelium
HP:0007513Generalized hypopigmentation
HP:0032513Four-vessel umbilical cord
HP:0011403Abnormal umbilical cord blood vessels
http://purl.obolibrary.org/obo/UBERON_0013697exocrine pancreas epithelium
http://purl.obolibrary.org/obo/UBERON_0035048parotid gland excretory duct
HP:0032519Increased Burr cell count
HP:0032518Disseminated dermatophytosis
HP:0007517Palmoplantar cutis laxa
HP:0032517Majocchi's granuloma
http://purl.obolibrary.org/obo/UBERON_0035049excretory duct of salivary gland
http://purl.obolibrary.org/obo/UBERON_0001837duct of salivary gland
HP:0007516Redundant skin on fingers
HP:0032516Invasive dermatophyte infection
HP:0032162Unusual skin infection
http://purl.obolibrary.org/obo/UBERON_0035032abdominal oblique muscle
HP:0032500Exacerbated by tobacco use
HP:0032509Onychotillomania
HP:0007522Increased number of skin folds
HP:0007521Irregular hyperpigmentation of back
HP:0007526Hypopigmented skin patches on arms
HP:0032504Lhermitte's sign
HP:0007525Yellow subcutaneous tissue covered by thin, scaly skin
HP:0032503Ameliorated by ethanol ingestion
HP:0025254Ameliorated by
HP:0007524Atypical neurofibromatosis
HP:0032502Exacerbated by barbiturate medication
HP:0032501Exacerbated by contraceptive medication
HP:0032508Polyembolokoilamania
http://purl.obolibrary.org/obo/UBERON_0035036naris epithelium
HP:0007529Hidrotic ectodermal dysplasia
HP:0032507Labiomental fasciculations
HP:0007089Facial-lingual fasciculations
HP:0010546Muscle fibrillation
HP:0002380Fasciculations
HP:0032506Alien limb phenomenon
http://purl.obolibrary.org/obo/UBERON_0035038carpal tunnel
HP:0032505Hydrophobia
http://purl.obolibrary.org/obo/UBERON_0035021right vagus X nerve trunk
http://purl.obolibrary.org/obo/UBERON_0035020left vagus X nerve trunk
http://purl.obolibrary.org/obo/PATO_0002089polycystic
http://purl.obolibrary.org/obo/PATO_0001673cystic
http://purl.obolibrary.org/obo/PATO_0002096neoplastic, non-malignant
http://purl.obolibrary.org/obo/PATO_0002097neoplastic, malignant
http://purl.obolibrary.org/obo/PATO_0002094basophilic
http://purl.obolibrary.org/obo/PATO_0002070affinity
http://purl.obolibrary.org/obo/PATO_0002093ballooning
http://purl.obolibrary.org/obo/PATO_0000595increased volume
http://purl.obolibrary.org/obo/PATO_0000586increased size
http://purl.obolibrary.org/obo/PATO_0000918volume
http://purl.obolibrary.org/obo/PATO_00017103-D extent
http://purl.obolibrary.org/obo/PATO_0000117size
HP:0007530Punctate palmoplantar hyperkeratosis
HP:0007537Severe photosensitivity
HP:0007536Aplasia cutis congenita of midline scalp vertex
HP:0004471Aplasia cutis congenita over the scalp vertex
HP:0007534Congenital posterior occipital alopecia
HP:0032441Blood group AB
HP:0032440Blood group B
HP:0032444Status post organ transplantation
HP:0032442Blood group O
HP:0032224ABO blood group
HP:0032223Blood group
http://purl.obolibrary.org/obo/UBERON_0001663cerebral vein
http://purl.obolibrary.org/obo/UBERON_0001665triceps surae
http://purl.obolibrary.org/obo/UBERON_0001667tibialis posterior
http://purl.obolibrary.org/obo/UBERON_0001668cerebellar vein
HP:0032449Abnormal dermoepidermal hemidesmosome morphology
HP:0031538Abnormal dermoepidermal junction morphology
HP:0032448Achlorhydria
HP:0032447Pulmonary bleb
HP:0032446Pulmonary bulla
http://purl.obolibrary.org/obo/UBERON_0013647lateral pterygoid nerve
http://purl.obolibrary.org/obo/UBERON_0013648masseteric artery
http://purl.obolibrary.org/obo/UBERON_0013646buccal nerve
HP:0032430Increased HDL3b concentration
HP:0032434Delayed umbilical cord separation
HP:0032433Decreased HDL3c concentration
HP:0032432Increased HDL3c concentration
HP:0032431Decreased HDL3b concentration
http://purl.obolibrary.org/obo/UBERON_0001674masseteric vein
http://purl.obolibrary.org/obo/UBERON_0001676occipital bone
http://purl.obolibrary.org/obo/UBERON_0001675trigeminal ganglion
http://purl.obolibrary.org/obo/UBERON_0001800sensory ganglion
http://purl.obolibrary.org/obo/UBERON_0001678temporal bone
http://purl.obolibrary.org/obo/UBERON_0001677sphenoid bone
http://purl.obolibrary.org/obo/UBERON_0008193pneumatized bone
http://purl.obolibrary.org/obo/UBERON_0001679ethmoid bone
HP:0032438Platelet anisocytosis
HP:0032437Reduced C-reactive protein level
HP:0032436Abnormal C-reactive protein level
HP:0032435Neonatal omphalitis
HP:0032439Airborn particle hypersensitivity
HP:0032423Decreased HDL2b concentration
HP:0032421Decreased HDL2a concentration
HP:0032420Increased HDL2a concentration
http://purl.obolibrary.org/obo/UBERON_0001685hyoid bone
http://purl.obolibrary.org/obo/UBERON_0001684mandible
http://purl.obolibrary.org/obo/UBERON_0004742dentary
http://purl.obolibrary.org/obo/UBERON_0004768bone of lower jaw
http://purl.obolibrary.org/obo/UBERON_0001687stapes bone
http://purl.obolibrary.org/obo/UBERON_0015016stapes endochondral element
http://purl.obolibrary.org/obo/UBERON_0001689malleus bone
http://purl.obolibrary.org/obo/UBERON_0015018malleus endochondral element
http://purl.obolibrary.org/obo/UBERON_0001688incus bone
http://purl.obolibrary.org/obo/UBERON_0015017incus endochondral element
http://purl.obolibrary.org/obo/UBERON_0001686auditory ossicle bone
http://purl.obolibrary.org/obo/UBERON_0035130auditory ossicle endochondral element
http://purl.obolibrary.org/obo/UBERON_0001681nasal bone
http://purl.obolibrary.org/obo/UBERON_0001680lacrimal bone
http://purl.obolibrary.org/obo/UBERON_0001683jugal bone
http://purl.obolibrary.org/obo/UBERON_0001682palatine bone
http://purl.obolibrary.org/obo/UBERON_0011597bone of upper jaw
http://purl.obolibrary.org/obo/UBERON_0012360bone of jaw
http://purl.obolibrary.org/obo/UBERON_0012071palate bone
HP:0032427Abnormal HDL3c concentration
HP:0032426Abnormal HDL3b concentration
HP:0032424Increased HDL2b concentration
HP:0032422Abnormal HDL2b concentration
HP:0032429Decreased HDL3a concentration
HP:0032428Increased HDL3a concentration
HP:0032425Abnormal HDL3a concentration
HP:0032412Anterior predominant subcortical band heterotopia
HP:0032411Posterior predominant subcortical band heterotopia
HP:0032410Bilateral generalized polymicrogyria
http://purl.obolibrary.org/obo/UBERON_0001695squamous part of temporal bone
http://purl.obolibrary.org/obo/UBERON_0011164neurocranium bone
http://purl.obolibrary.org/obo/UBERON_0004766cranial bone
http://purl.obolibrary.org/obo/UBERON_0008907dermal bone
http://purl.obolibrary.org/obo/UBERON_0004756dermal skeletal element
http://purl.obolibrary.org/obo/UBERON_0007842membrane bone
http://purl.obolibrary.org/obo/UBERON_0002514intramembranous bone
http://purl.obolibrary.org/obo/CHEBI_46883carboxy group
http://purl.obolibrary.org/obo/UBERON_0001697orbit of skull
http://purl.obolibrary.org/obo/UBERON_0001690ear
http://purl.obolibrary.org/obo/UBERON_0001691external ear
http://purl.obolibrary.org/obo/UBERON_0001694petrous part of temporal bone
HP:0032415Parasagittal parieto-occipital polymicrogyria
HP:0032414Hydrixylysinuria
HP:0032413Diffuse subcortical band heterotopia
HP:0032409Subcortical band heterotopia
HP:0032391Subcortical heterotopia
HP:0002282Gray matter heterotopia
HP:0032419Abnormal HDL2a concentration
http://purl.obolibrary.org/obo/UBERON_0013678anatomical line between inner canthi
HP:0032418Abnormal HDL subfraction concentration
http://purl.obolibrary.org/obo/UBERON_0013679inner canthus of right eye
http://purl.obolibrary.org/obo/UBERON_0005611inner canthus
HP:0032417Periglomerular fibrosis
HP:0032484Elevated fecal sodium
http://purl.obolibrary.org/obo/UBERON_0001628posterior communicating artery
http://purl.obolibrary.org/obo/UBERON_0006347communicating artery
HP:0032482Decreased pituitary glycoprotein hormone alpha subunit level
HP:0032489Elevated fecal pH
HP:0032487Reduced fecal osmolality
HP:0032486Elevated fecal osmolality
HP:0032485Abnormal fecal osmolality
http://purl.obolibrary.org/obo/UBERON_0001621coronary artery
http://purl.obolibrary.org/obo/UBERON_0001620central retinal artery
http://purl.obolibrary.org/obo/UBERON_0001623dorsal nasal artery
HP:0007470Periarticular subcutaneous nodules
HP:0001482Subcutaneous nodule
HP:0200036Skin nodule
HP:0032481Abnormal pituitary glycoprotein hormone alpha subunit level
http://purl.obolibrary.org/obo/UBERON_0001622lacrimal artery
http://purl.obolibrary.org/obo/GO_0009437carnitine metabolic process
http://purl.obolibrary.org/obo/GO_0006577amino-acid betaine metabolic process
http://purl.obolibrary.org/obo/GO_0006575cellular modified amino acid metabolic process
HP:0032480Beta-aminoisobutyric aciduria
http://purl.obolibrary.org/obo/GO_0009438methylglyoxal metabolic process
http://purl.obolibrary.org/obo/GO_0006081cellular aldehyde metabolic process
HP:0007462Bitot spots of the conjunctiva
HP:0007460Autoamputation of digits
HP:0001218Autoamputation
HP:0007466Midfrontal capillary hemangioma
HP:0007465Honeycomb palmoplantar keratoderma
HP:0007464Sparse facial hair
HP:0007469Palmoplantar cutis gyrata
HP:0007468Perifollicular hyperkeratosis
HP:0032473Decreased urine urobilinogen
HP:0032472Abnormal urine urobilinogen level
http://purl.obolibrary.org/obo/UBERON_0001639hepatic portal vein
HP:0032471Focal polymicrogyria
HP:0002126Polymicrogyria
HP:0032478Lateral spinal meningocele
HP:0032477Elevated circulating vitamin B6 level
HP:0032476Abnormal circulating vitamin B6 level
HP:00324756-layered lissencephaly
http://purl.obolibrary.org/obo/UBERON_0001631thoracic duct
HP:0007481Hyperpigmented nevi
HP:0032470Monilethrix
http://purl.obolibrary.org/obo/UBERON_0001633basilar artery
http://purl.obolibrary.org/obo/UBERON_0035307branch of vertebral artery
HP:0007480Decreased sweating due to autonomic dysfunction
HP:0000966Hypohidrosis
HP:0007550Hypohidrosis or hyperhidrosis
HP:0025276Abnormality of skin adnexa physiology
http://purl.obolibrary.org/obo/UBERON_0001635superior cerebellar artery
http://purl.obolibrary.org/obo/UBERON_0035489branch of basilar artery
http://purl.obolibrary.org/obo/UBERON_0013619upper secondary molar tooth
http://purl.obolibrary.org/obo/UBERON_0018613secondary upper tooth
HP:0007473Crusting erythematous dermatitis
http://purl.obolibrary.org/obo/UBERON_0013617upper primary molar tooth
http://purl.obolibrary.org/obo/UBERON_0018616primary upper tooth
HP:0007471Axillary and groin hyperpigmentation and hypopigmentation
HP:0007476Anhidrotic ectodermal dysplasia
HP:0007475Congenital bullous ichthyosiform erythroderma
HP:0007479Congenital nonbullous ichthyosiform erythroderma
HP:0007431Congenital ichthyosiform erythroderma
HP:0008064Ichthyosis
HP:0032479Preimplantation lethality
http://purl.obolibrary.org/obo/UBERON_0001649glossopharyngeal nerve
HP:0032463Reduced circulating fibronectin level
http://purl.obolibrary.org/obo/UBERON_0001648vestibulocochlear nerve
HP:0032462Increased circulating palmitate level
HP:0032460Decreased phosphoribosylpyrophosphate synthetase level
http://purl.obolibrary.org/obo/PATO_0002019aplastic growth
http://purl.obolibrary.org/obo/PATO_0001433growth quality of occurrent
HP:0032466Aplasia of the olfactory bulb
HP:0032465Bladder trabeculation
HP:0032464Ureteral hypoplasia
http://purl.obolibrary.org/obo/UBERON_0001641transverse sinus
http://purl.obolibrary.org/obo/UBERON_0017635paired venous dural sinus
http://purl.obolibrary.org/obo/UBERON_0005486venous dural sinus
http://purl.obolibrary.org/obo/UBERON_0006615venous sinus
http://purl.obolibrary.org/obo/UBERON_0001640celiac artery
http://purl.obolibrary.org/obo/UBERON_0001643oculomotor nerve
http://purl.obolibrary.org/obo/UBERON_0001645trigeminal nerve
http://purl.obolibrary.org/obo/PATO_0002011neoplastic
http://purl.obolibrary.org/obo/UBERON_0001644trochlear nerve
http://purl.obolibrary.org/obo/UBERON_0001647facial nerve
HP:0007490Linear arrays of macular hyperkeratoses in flexural areas
http://purl.obolibrary.org/obo/UBERON_0001646abducens nerve
http://purl.obolibrary.org/obo/GO_0022403cell cycle phase
HP:0007483Depigmentation/hyperpigmentation of skin
http://purl.obolibrary.org/obo/PATO_0002021conical
HP:0007482Generalized papillary lesions
HP:0007489Diffuse telangiectasia
HP:0007488Diffuse skin atrophy
HP:0004334Dermal atrophy
HP:0007486Cavernous hemangioma of the face
HP:0001048Cavernous hemangioma
http://purl.obolibrary.org/obo/UBERON_0013621lower secondary molar tooth
http://purl.obolibrary.org/obo/UBERON_0018614permanent lower tooth
http://purl.obolibrary.org/obo/UBERON_0013618secondary molar tooth
http://purl.obolibrary.org/obo/UBERON_0007775secondary tooth
HP:0032469Anti-asialoglycoprotein receptor antibody positivity
http://purl.obolibrary.org/obo/UBERON_0013620lower primary molar tooth
http://purl.obolibrary.org/obo/UBERON_0013616primary molar tooth
HP:0032468History of stillbirth
HP:0032467Past obstetric history
http://purl.obolibrary.org/obo/PR_P14151L-selectin (human)
HP:0032452Oral melanoacanthoma
HP:0032451Oral melanotic macule
HP:0100669Abnormal pigmentation of the oral mucosa
HP:0032450Positive blood arsenic test
http://purl.obolibrary.org/obo/PATO_0002009branchiness
HP:0032456Unlayered lissencephaly
HP:0032455Reduced granulocyte CD18 level
HP:0031553Reduced granulocyte surface marker level
HP:0031551Reduced cell surface marker level
HP:0031550Abnormal flow cytometry test result
http://purl.obolibrary.org/obo/UBERON_2007013preplacodal ectoderm
http://purl.obolibrary.org/obo/UBERON_0005497non-neural ectoderm
HP:0032454Labial melanotic macule
HP:0032453Abnormal lip pigmentation
http://purl.obolibrary.org/obo/UBERON_0001652left pulmonary artery
http://purl.obolibrary.org/obo/UBERON_0001651right pulmonary artery
http://purl.obolibrary.org/obo/PATO_0002007convex 3-D shape
http://purl.obolibrary.org/obo/UBERON_0001653facial vein
http://purl.obolibrary.org/obo/PATO_0002001has fewer parts of type
http://purl.obolibrary.org/obo/PATO_0002000lacks all parts of type
http://purl.obolibrary.org/obo/PATO_0001999lacks parts or has fewer parts of type
http://purl.obolibrary.org/obo/PATO_0002002has extra parts of type
http://purl.obolibrary.org/obo/PATO_0002083altered number of
http://purl.obolibrary.org/obo/PATO_0001555has number of
HP:0007494Discrete 2 to 5-mm hyper- and hypopigmented macules
HP:0007441Hyperpigmented/hypopigmented macules
HP:0009123Mixed hypo- and hyperpigmentation of the skin
HP:0007499Recurrent staphylococcal infections
http://purl.obolibrary.org/obo/GO_0022410circadian sleep/wake cycle process
http://purl.obolibrary.org/obo/GO_0048512circadian behavior
http://purl.obolibrary.org/obo/UBERON_0001650hypoglossal nerve
http://purl.obolibrary.org/obo/UBERON_0001785cranial nerve
http://purl.obolibrary.org/obo/UBERON_0034713cranial neuron projection bundle
HP:0007497Focal friction-related palmoplantar hyperkeratosis
http://purl.obolibrary.org/obo/UBERON_0013632sesamoid cartilage
HP:0032458Narrowing of medullary canal
HP:00324572-3-layered lissencephaly
HP:0001339Lissencephaly
HP:0002536Abnormal cortical gyration
HP:0002269Abnormality of neuronal migration
http://purl.obolibrary.org/obo/UBERON_0013636epithelium of intestinal villus
http://purl.obolibrary.org/obo/UBERON_0001902epithelium of small intestine
http://purl.obolibrary.org/obo/UBERON_0013637prostate gland lateral lobe
http://purl.obolibrary.org/obo/UBERON_0001605ciliary muscle
http://purl.obolibrary.org/obo/UBERON_0001604levator palpebrae superioris
http://purl.obolibrary.org/obo/UBERON_0001607sphincter pupillae
http://purl.obolibrary.org/obo/UBERON_0007521smooth muscle sphincter
http://purl.obolibrary.org/obo/UBERON_0001606muscle of iris
http://purl.obolibrary.org/obo/UBERON_0011222intra-ocular muscle
http://purl.obolibrary.org/obo/UBERON_0001608dilatator pupillae
http://purl.obolibrary.org/obo/UBERON_0004234iris smooth muscle
http://purl.obolibrary.org/obo/CHEBI_83822non-proteinogenic L-alpha-amino acid
http://purl.obolibrary.org/obo/UBERON_0001600tensor tympani
http://purl.obolibrary.org/obo/UBERON_0001603lateral rectus extra-ocular muscle
http://purl.obolibrary.org/obo/UBERON_0001602medial rectus extraocular muscle
http://purl.obolibrary.org/obo/UBERON_0006533rectus extraocular muscle
http://purl.obolibrary.org/obo/UBERON_0006531oculomotor muscle
http://purl.obolibrary.org/obo/UBERON_0001601extra-ocular muscle
http://purl.obolibrary.org/obo/UBERON_0001616maxillary artery
HP:0032496Elevated terminal:vellus ratio
http://purl.obolibrary.org/obo/UBERON_0001618buccal artery
http://purl.obolibrary.org/obo/UBERON_0001617mental artery
HP:0032493Increased circulating trypsinogen
http://purl.obolibrary.org/obo/UBERON_0001619ophthalmic artery
HP:0032499Giant neutrophil granules
HP:0032497Reduced terminal:vellus ratio
HP:0032495Abnormal terminal:vellus ratio
http://purl.obolibrary.org/obo/UBERON_0001610lingual artery
http://purl.obolibrary.org/obo/UBERON_0001612facial artery
HP:0032492Anti-myelin oligodendrocyte glycoprotein antibody positivity
http://purl.obolibrary.org/obo/UBERON_0001611sublingual artery
HP:0032491Increased circulating argininosuccinic acid
HP:0032490Decreased fecal pH
HP:0032488Abnormal fecal pH
http://purl.obolibrary.org/obo/UBERON_0001613occipital artery
http://purl.obolibrary.org/obo/UBERON_0035398branch of external carotid artery
http://purl.obolibrary.org/obo/NBO_0000546polyphagia
http://purl.obolibrary.org/obo/NBO_0000544aphagia
http://purl.obolibrary.org/obo/NBO_0000539eating behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000543hyperdipsia
http://purl.obolibrary.org/obo/NBO_0000542polydipsia
http://purl.obolibrary.org/obo/NBO_0000541dipsosis
http://purl.obolibrary.org/obo/NBO_0000961increased frequency of drinking
http://purl.obolibrary.org/obo/CHEBI_22860amino-acid betaine
http://purl.obolibrary.org/obo/CHEBI_35284ammonium betaine
http://purl.obolibrary.org/obo/CHEBI_35281onium betaine
http://purl.obolibrary.org/obo/CHEBI_26469quaternary nitrogen compound
http://purl.obolibrary.org/obo/UBERON_5101463manual digit 1 digitopodial skeleton
http://purl.obolibrary.org/obo/CHEBI_3306calcitonin
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2295CP (human)
http://purl.obolibrary.org/obo/CHEBI_46818urate anion
http://purl.obolibrary.org/obo/CHEBI_46819urate salt
http://purl.obolibrary.org/obo/CHEBI_22881biopterins
http://purl.obolibrary.org/obo/NBO_0000515depressive disorder
http://purl.obolibrary.org/obo/NBO_0000256mood disorder
http://www.informatics.jax.org/marker/MGI:3712069Ly6c2 (mouse)
http://purl.obolibrary.org/obo/CHEBI_46842sarcosinium
http://purl.obolibrary.org/obo/GO_1901738regulation of vitamin A metabolic process
http://purl.obolibrary.org/obo/GO_0030656regulation of vitamin metabolic process
http://purl.obolibrary.org/obo/GO_1901731positive regulation of platelet aggregation
http://purl.obolibrary.org/obo/GO_0090330regulation of platelet aggregation
http://purl.obolibrary.org/obo/GO_0034112positive regulation of homotypic cell-cell adhesion
http://purl.obolibrary.org/obo/GO_0034110regulation of homotypic cell-cell adhesion
http://purl.obolibrary.org/obo/GO_0046323glucose import
http://purl.obolibrary.org/obo/GO_1904659glucose transmembrane transport
http://purl.obolibrary.org/obo/GO_0008645hexose transmembrane transport
http://purl.obolibrary.org/obo/GO_0015749monosaccharide transmembrane transport
http://purl.obolibrary.org/obo/GO_0034219carbohydrate transmembrane transport
http://purl.obolibrary.org/obo/GO_0008643carbohydrate transport
http://purl.obolibrary.org/obo/GO_0055085transmembrane transport
http://purl.obolibrary.org/obo/GO_0046326positive regulation of glucose import
http://purl.obolibrary.org/obo/GO_0046325negative regulation of glucose import
http://purl.obolibrary.org/obo/GO_0046324regulation of glucose import
HP:0007609Hypoproteinemic edema
HP:0007608Abnormal palmar dermal ridges
HP:0007603Freckles in sun-exposed areas
HP:0007602Complex palmar dermatoglyphic pattern
HP:0007601Midline facial capillary hemangioma
HP:0000996Facial capillary hemangioma
HP:0000329Facial hemangioma
HP:0007607Hypohidrotic ectodermal dysplasia
HP:0000968Ectodermal dysplasia
HP:0007606Multiple cutaneous malignancies
HP:0007605Excessive wrinkling of palmar skin
HP:0007392Excessive wrinkled skin
HP:0100678Premature skin wrinkling
HP:0007610Blotching pigmentation of the skin
HP:0007613Spinous keratoses of palms and soles
HP:0000972Palmoplantar hyperkeratosis
HP:0010765Palmar hyperkeratosis
HP:0007556Plantar hyperkeratosis
HP:0100872Abnormality of the plantar skin of foot
HP:0007618Subcutaneous calcification
HP:0007617Fine, reticulate skin pigmentation
HP:0007616Nevus flammeus nuchae
HP:0001052Naevus flammeus
HP:0025104Capillary malformation
http://purl.obolibrary.org/obo/NBO_0000455attention behavior
http://purl.obolibrary.org/obo/NBO_0000446visual pursuit
http://purl.obolibrary.org/obo/NBO_0000444eye movement
http://purl.obolibrary.org/obo/PR_Q61549adhesion G protein-coupled receptor E1 (mouse)
http://purl.obolibrary.org/obo/NBO_0000469stress related behavior
http://purl.obolibrary.org/obo/PATO_0002155medially rotated
http://purl.obolibrary.org/obo/PATO_0002154splayed ventral
http://purl.obolibrary.org/obo/PATO_0001785splayed
http://purl.obolibrary.org/obo/PATO_0000406curved
http://purl.obolibrary.org/obo/PATO_0002157partially dislocated
http://purl.obolibrary.org/obo/PATO_0001852dislocated
http://purl.obolibrary.org/obo/MPATH_98lymphangiectasis
http://purl.obolibrary.org/obo/MPATH_474ectasia
http://purl.obolibrary.org/obo/PATO_0002156laterally rotated
http://purl.obolibrary.org/obo/PATO_0001599rotated
http://purl.obolibrary.org/obo/PATO_0000614oriented
http://purl.obolibrary.org/obo/PATO_0000440regular spatial pattern
http://purl.obolibrary.org/obo/PATO_0002162high-arched
http://purl.obolibrary.org/obo/PATO_0001594arched
http://purl.obolibrary.org/obo/PATO_0001857concave
http://purl.obolibrary.org/obo/PATO_0002005concavity
http://purl.obolibrary.org/obo/PATO_0002161bicornuate
http://purl.obolibrary.org/obo/PATO_0002008concave 3-D shape
HP:0005001Recurrent patellar dislocation
HP:0002999Patellar dislocation
HP:0031869Recurrent joint dislocation
HP:0032609Endocrine-type tubular atrophy
http://purl.obolibrary.org/obo/PATO_0002163herniated into
http://purl.obolibrary.org/obo/PATO_0001645protruding into
http://purl.obolibrary.org/obo/PATO_0001598protruding
HP:0032608Thyroidization-type tubular atrophy
HP:0007665Curly eyelashes
HP:0002212Curly hair
http://purl.obolibrary.org/obo/MPATH_90aneurysm
HP:0032603Renal tubular epithelial cell simplification
HP:0005008Large joint dislocations
HP:0007668Impaired pursuit initiation and maintenance
HP:0032602Prominent nucleoli of renal tubular epithelial cells
HP:0005009Dumbbell-shaped humerus
HP:0000947Dumbbell-shaped long bone
HP:0007667Peripheral cystoid retinal degeneration
HP:0032601Multinucleation of renal tubular epithelial cells
HP:0032600Renal tubular epithelial cell hyaline droplets
HP:0032607Renal tubular epithelial cell swelling
HP:0005004Flattened proximal radial epiphyses
HP:0004002Flattened radial epiphyses
HP:0032606Renal tubular epithelial lipofuscin
HP:0005005Femoral bowing present at birth, straightening with time
HP:0032605High renal tubular epithelial cell N/C ratio
HP:0032604Renal tubular epithelial cell mitosis
http://purl.obolibrary.org/obo/PATO_0002149ivory
http://purl.obolibrary.org/obo/PATO_0001788increased mass density
http://purl.obolibrary.org/obo/PATO_0001164dense
http://purl.obolibrary.org/obo/MPATH_89cardiovascular developmental defect
http://purl.obolibrary.org/obo/PATO_0002143sloped downward
http://purl.obolibrary.org/obo/PATO_0001481sloped
http://purl.obolibrary.org/obo/MPATH_86organ specific developmental defect
HP:0005011Mesomelic arm shortening
HP:0005013Dysplastic distal radial epiphyses
HP:0002656Epiphyseal dysplasia
HP:0010597Abnormality of the distal radial epiphysis
HP:0007675Progressive night blindness
HP:0005010Osteomyelitis leading to amputation due to slow healing fractures
HP:0005019Diaphyseal thickening
HP:0007678Lacrimal duct stenosis
HP:0007677Vitelliform-like macular lesions
HP:0005017Polyarticular chondrocalcinosis
HP:0000934Chondrocalcinosis
HP:0100685Abnormal Sharpey fiber morphology
http://purl.obolibrary.org/obo/PATO_0002177deviation towards the medial side
HP:0007690Map-dot-fingerprint corneal dystrophy
http://purl.obolibrary.org/obo/PATO_0002176deviation towards the lateral side
http://purl.obolibrary.org/obo/PATO_0002179mislocalised proximally
http://purl.obolibrary.org/obo/PATO_0000628mislocalised
http://purl.obolibrary.org/obo/MPATH_74hamartoma
HP:0007680Depigmented fundus
HP:0005025Hypoplastic distal humeri
http://purl.obolibrary.org/obo/PATO_0002180straight
http://purl.obolibrary.org/obo/MPATH_70fistula
HP:0007687Unilateral ptosis
http://purl.obolibrary.org/obo/PATO_0002182molecular quality
HP:0007685Peripheral retinal avascularization
http://purl.obolibrary.org/obo/PATO_0002181displaced
HP:0005021Bilateral elbow dislocations
http://purl.obolibrary.org/obo/CL_0008002skeletal muscle fiber
http://purl.obolibrary.org/obo/CL_0002372myotube
http://purl.obolibrary.org/obo/CL_0000737striated muscle cell
http://purl.obolibrary.org/obo/CL_0000187muscle cell
http://purl.obolibrary.org/obo/CL_0000183contractile cell
http://purl.obolibrary.org/obo/CL_0000228multinucleate cell
http://purl.obolibrary.org/obo/CL_0002242nucleate cell
http://purl.obolibrary.org/obo/CL_0008001hematopoietic precursor cell
http://purl.obolibrary.org/obo/CL_0000988hematopoietic cell
HP:0007688Undetectable light- and dark-adapted electroretinogram
HP:0008323Abnormal light- and dark-adapted electroretinogram
HP:0005026Mesomelic/rhizomelic limb shortening
HP:0005028Widened proximal tibial metaphyses
http://purl.obolibrary.org/obo/PATO_0002169split medially
http://purl.obolibrary.org/obo/PATO_0001786split
http://purl.obolibrary.org/obo/MPATH_68diverticulum
http://purl.obolibrary.org/obo/PATO_0002166premature closure
http://purl.obolibrary.org/obo/PATO_0000694premature
http://purl.obolibrary.org/obo/PATO_0002165drooping
http://purl.obolibrary.org/obo/MPATH_66dilatation
http://purl.obolibrary.org/obo/MPATH_64developmental dysplasia
http://purl.obolibrary.org/obo/MPATH_599developmental process abnormalities
HP:0005033Distal ulnar hypoplasia
http://purl.obolibrary.org/obo/MPATH_62cyst
http://purl.obolibrary.org/obo/PATO_0002175deviation
http://purl.obolibrary.org/obo/PATO_0000060spatial pattern
HP:0005036Unilateral ulnar hypoplasia
HP:0007697Hypoplasia of the lower eyelids
http://purl.obolibrary.org/obo/GO_0071345cellular response to cytokine stimulus
http://purl.obolibrary.org/obo/GO_0034097response to cytokine
HP:0005037Proximal radio-ulnar synostosis
HP:0002974Radioulnar synostosis
HP:0005039Multiple long-bone exostoses
HP:0032643Renal interstitial non-necrotizing granulomas
HP:0032642Renal interstitial necrotizing granulomas
HP:0032641Renal interstitial granulomas
HP:0032640Elevated circulating CCL18 level
http://purl.obolibrary.org/obo/UBERON_0001586internal jugular vein
http://purl.obolibrary.org/obo/UBERON_0004711jugular vein
http://purl.obolibrary.org/obo/UBERON_0001585anterior vena cava
http://purl.obolibrary.org/obo/MPATH_56developmental or adult structural defect
http://purl.obolibrary.org/obo/PATO_0002198quality of a substance
http://purl.obolibrary.org/obo/MPATH_55developmental and structural abnormality
http://purl.obolibrary.org/obo/CHEBI_1321421,4-naphthoquinones
http://purl.obolibrary.org/obo/CHEBI_25481naphthoquinone
http://purl.obolibrary.org/obo/CHEBI_25830p-quinones
http://purl.obolibrary.org/obo/UBERON_0001580levator labii superioris
http://purl.obolibrary.org/obo/UBERON_0001582buccinator muscle
HP:0007621Telangiectasia of extensor surfaces
HP:0007620Cutaneous leiomyoma
http://purl.obolibrary.org/obo/UBERON_0001581depressor labii inferioris
http://purl.obolibrary.org/obo/UBERON_0001584left subclavian artery
http://purl.obolibrary.org/obo/GO_0071310cellular response to organic substance
http://purl.obolibrary.org/obo/GO_0070887cellular response to chemical stimulus
http://purl.obolibrary.org/obo/GO_0051716cellular response to stimulus
http://purl.obolibrary.org/obo/GO_0010033response to organic substance
HP:0032647Renal tubular epithelial cell apoptosis
HP:0032646Renal interstitial xanthogranulomatous inflammation
http://purl.obolibrary.org/obo/CL_0008024pancreatic endocrine cell
http://purl.obolibrary.org/obo/CL_0000163endocrine cell
http://purl.obolibrary.org/obo/CL_0000151secretory cell
HP:0007623Pigmentation anomalies of sun-exposed skin
HP:0032645Renal interstitial mononuclear cell infiltration
HP:0007628Mandibular condyle hypoplasia
http://purl.obolibrary.org/obo/CL_0008028visual system neuron
http://purl.obolibrary.org/obo/CL_0000540neuron
http://purl.obolibrary.org/obo/CL_0000393electrically responsive cell
http://purl.obolibrary.org/obo/CL_0002319neural cell
http://purl.obolibrary.org/obo/CL_0000548animal cell
http://purl.obolibrary.org/obo/CL_0000255eukaryotic cell
http://purl.obolibrary.org/obo/CL_0000404electrically signaling cell
http://purl.obolibrary.org/obo/CL_0000211electrically active cell
HP:0007627Mandibular condyle aplasia
HP:0032649Skewfoot
HP:0001763Pes planus
HP:0007626Mandibular osteomyelitis
HP:0032648Tubularization of Bowman capsule
HP:0031264Abnormal morphology of Bowman capsule
HP:0032632Renal papillary necrosis
HP:0032631Intratubular hemoglobin casts
HP:0032630Intratubular light-chain casts
http://purl.obolibrary.org/obo/UBERON_0001597masseter muscle
http://purl.obolibrary.org/obo/UBERON_0001599stapedius muscle
http://purl.obolibrary.org/obo/UBERON_0004113muscle of auditory ossicle
http://purl.obolibrary.org/obo/UBERON_0001598temporalis muscle
http://purl.obolibrary.org/obo/UBERON_0001591thymic vein
http://purl.obolibrary.org/obo/UBERON_0001592bronchial vein
HP:0032636Tubulointerstitial viral infiltration
HP:0007634Nonarteritic anterior ischemic optic neuropathy
HP:0001138Optic neuropathy
HP:0032634Intratubular myoglobin cast
HP:0007633Bilateral microphthalmos
HP:0000568Microphthalmia
HP:0032633Intratubular hyaline casts
HP:0032639Elevated leukocyte cystine
HP:0032638Elevated urine mevalonic acid
http://purl.obolibrary.org/obo/CL_0008017adult skeletal muscle myoblast
http://purl.obolibrary.org/obo/CL_0000515skeletal muscle myoblast
http://purl.obolibrary.org/obo/CL_0000056myoblast
http://purl.obolibrary.org/obo/CL_0000680muscle precursor cell
http://purl.obolibrary.org/obo/CL_0000055non-terminally differentiated cell
http://purl.obolibrary.org/obo/CL_0011115precursor cell
http://purl.obolibrary.org/obo/CL_0000188cell of skeletal muscle
http://purl.obolibrary.org/obo/CL_0002371somatic cell
http://purl.obolibrary.org/obo/CL_0000003native cell
http://purl.obolibrary.org/obo/CL_0000000cell
HP:0032637Renal interstitial edema
HP:0032621Hyperchromasia of renal tubular epithelial cells
HP:0032620Intrarenal abscess
http://purl.obolibrary.org/obo/MPATH_36calcium deposition
http://purl.obolibrary.org/obo/MPATH_555mineralisation
http://purl.obolibrary.org/obo/MPATH_34amyloid deposition
http://purl.obolibrary.org/obo/MPATH_33intracellular and extracellular accumulation
http://purl.obolibrary.org/obo/MPATH_1cell and tissue damage
http://purl.obolibrary.org/obo/MPATH_603pathological anatomical entity
http://purl.obolibrary.org/obo/MPATH_31emphysema
HP:0007643Peripheral tractional retinal detachment
HP:0007641Dyschromatopsia
http://purl.obolibrary.org/obo/UBERON_0013588fused metatarsal bones 3 and 4
HP:0007647Congenital extraocular muscle anomaly
HP:0032625Intratubular erythrocyte cast
HP:0007646Absent lower eyelashes
HP:0032624Intratubular bilirubin casts
http://purl.obolibrary.org/obo/UBERON_0013587fused metacarpal bones 3 and 4
http://purl.obolibrary.org/obo/UBERON_0013586fused metapodial bones 3 and 4
HP:0032622Tubular luminal dilatation
HP:0032629Intratubular dihydroxyadenuria crystals
HP:0032628Renal intratubular crystals
HP:0032627Intratubular leukocyte casts
HP:0032626Intratubular vancomycin casts
HP:0032610Tubulointerstitial mycobacterial infiltration
HP:0032635Tubulointerstitial microganismal infiltration
http://purl.obolibrary.org/obo/MPATH_28atherosclerosis
http://purl.obolibrary.org/obo/MPATH_27arthrosis
http://purl.obolibrary.org/obo/MPATH_25tissue specific degenerative process
http://purl.obolibrary.org/obo/GO_0034358plasma lipoprotein particle
http://purl.obolibrary.org/obo/GO_1990777lipoprotein particle
http://purl.obolibrary.org/obo/GO_0032994protein-lipid complex
HP:0007650Progressive ophthalmoplegia
HP:0032619Perinephric abscess
HP:0007651Ectropion of lower eyelids
HP:0007658Large hyperpigmented retinal spots
HP:0032614Renal glomerular amyloid deposition
HP:0007657Diffuse nuclear cataract
HP:0100018Nuclear cataract
HP:0032613Renal interstitial amyloid deposits
HP:0001917Renal amyloidosis
HP:0007656Lacrimal gland aplasia
HP:0032612Triphalangeal hallux
HP:0010057Abnormality of the phalanges of the hallux
HP:0007655Eversion of lateral third of lower eyelids
HP:0000656Ectropion
HP:0032611Renal tubular epithelial cell hemosiderin
HP:0032618Renal necrosis
HP:0032617Renal interstitial hemorrhage
HP:0032616Renal interstitial immunoglobulin deposits
HP:0032615Abnormal diffusion weighted cerebral MRI morphology
HP:0032562Tapered sperm head
http://purl.obolibrary.org/obo/UBERON_0001549dorsal metatarsal vein
HP:0032561Microcephalic sperm head
HP:0012865Sperm head anomaly
HP:0032560Coiled sperm flagella
HP:0032566Oval macrocytosis
HP:0032565Vaginal mucosal ulceration
HP:0032564Ileitis
HP:0032563Dacryocytosis
http://purl.obolibrary.org/obo/UBERON_0001544popliteal vein
http://purl.obolibrary.org/obo/MPATH_14process of degenerative change
http://purl.obolibrary.org/obo/MPATH_597cell and tissue damage process
http://purl.obolibrary.org/obo/MPATH_596pathological process
http://purl.obolibrary.org/obo/MPATH_0pathological entity
http://purl.obolibrary.org/obo/UBERON_0001543popliteal lymph node
http://purl.obolibrary.org/obo/UBERON_0016398lymph node of lower limb
HP:0032569Temporal bossing
HP:0032568Urinary mulberry cells
HP:0032567Lipiduria
http://purl.obolibrary.org/obo/UBERON_0013526otocyst lumen
http://purl.obolibrary.org/obo/UBERON_0007473lumen of epithelial sac
http://purl.obolibrary.org/obo/UBERON_0012467enclosed anatomical space
http://purl.obolibrary.org/obo/UBERON_0013525stomach lumen
HP:0032551Hemorrhoids
HP:0032550Howell-Jolly bodies
HP:0020080Erythrocyte inclusion bodies
HP:0032555Bounding pulse
HP:0032554Absent pulse
HP:0032553Weak pulse
HP:0032552Abnormal pulse
http://purl.obolibrary.org/obo/PR_P26011integrin beta-7 (mouse)
http://purl.obolibrary.org/obo/UBERON_0001555digestive tract
http://purl.obolibrary.org/obo/UBERON_0001554skin of hip
http://purl.obolibrary.org/obo/UBERON_0001557upper respiratory tract
http://purl.obolibrary.org/obo/PR_P26010integrin beta-7 (human)
http://purl.obolibrary.org/obo/UBERON_0001556lower urinary tract
http://purl.obolibrary.org/obo/UBERON_0001558lower respiratory tract
http://purl.obolibrary.org/obo/UBERON_0000072proximo-distal subdivision of respiratory tract
HP:0032559Short sperm flagella
HP:0032558Absent sperm flagella
HP:0012868Sperm tail anomaly
HP:0012864Abnormal sperm morphology
HP:0012863Abnormal male germ cell morphology
HP:0012862Abnormal germ cell morphology
HP:0032557History of bone marrow transplant
HP:0032443Past medical history
HP:0032556Circumoral cyanosis
HP:0000961Cyanosis
HP:0001005Dermatological manifestations of systemic disorders
HP:0032540Joint flexor surface localization
HP:0032544Predominant small joint localization
HP:0032543Lithoptysis
HP:0032016Abnormal sputum
HP:0032542Exacerbated by pregnancy
HP:0032541Knuckle pad
http://purl.obolibrary.org/obo/UBERON_0001564mylohyoid muscle
http://purl.obolibrary.org/obo/UBERON_0001566cricothyroid muscle
http://purl.obolibrary.org/obo/UBERON_0006328laryngeal intrinsic muscle
http://purl.obolibrary.org/obo/UBERON_0001565geniohyoid muscle
http://purl.obolibrary.org/obo/UBERON_0011151jaw depressor muscle
http://purl.obolibrary.org/obo/UBERON_0001568muscle of larynx
http://purl.obolibrary.org/obo/UBERON_0002377muscle of neck
http://purl.obolibrary.org/obo/UBERON_0001567cheek
http://purl.obolibrary.org/obo/UBERON_0001562digastric muscle group
http://purl.obolibrary.org/obo/UBERON_0008571suprahyoid muscle
http://purl.obolibrary.org/obo/UBERON_0005493hyoid muscle
http://purl.obolibrary.org/obo/UBERON_0000933pharyngeal muscle
HP:0032548Increased placental thickness
HP:0012767Abnormal placental size
HP:0032547Low intraocular pressure
HP:0032546Abdominal guarding
HP:0032545Abdominal rigidity
HP:0032549Persistent asymmetrical tonic neck reflex
HP:0032533Elevated circulating acetone
HP:0032532Elevated CSF 4-hydroxybutyric acid concentration
HP:0032531Elevated CSF gamma-aminobutyric acid concentration
HP:0032530Decreased succinic semialdehyde dehydrogenase level
http://purl.obolibrary.org/obo/UBERON_0001574palatoglossus muscle
http://purl.obolibrary.org/obo/UBERON_0001577facial muscle
http://purl.obolibrary.org/obo/UBERON_0001576intrinsic muscle of tongue
http://purl.obolibrary.org/obo/PR_Q00519xanthine dehydrogenase/oxidase (mouse)
http://purl.obolibrary.org/obo/PR_000017477xanthine dehydrogenase/oxidase
http://purl.obolibrary.org/obo/CHEBI_46761dipeptide
http://purl.obolibrary.org/obo/CHEBI_25676oligopeptide
http://purl.obolibrary.org/obo/UBERON_0001578orbicularis oculi muscle
http://purl.obolibrary.org/obo/UBERON_0004277eye muscle
http://purl.obolibrary.org/obo/UBERON_0001571genioglossus muscle
http://purl.obolibrary.org/obo/UBERON_0001573styloglossus
http://purl.obolibrary.org/obo/UBERON_0001572hyoglossus muscle
http://purl.obolibrary.org/obo/UBERON_0001575extrinsic muscle of tongue
http://purl.obolibrary.org/obo/UBERON_0000378tongue muscle
HP:0032537Delayed fracture healing
HP:0032536Increased number of lymph nodes
HP:0002733Abnormality of the lymph nodes
HP:0032535Cervical (neck)
HP:0032534Exacerbated by methylxanthine ingestion
HP:0025285Aggravated by
HP:0032539Joint extensor surface localization
HP:0032538Pretibial dimple
http://purl.obolibrary.org/obo/UBERON_0001508arch of aorta
http://purl.obolibrary.org/obo/UBERON_0001507biceps brachii
http://purl.obolibrary.org/obo/PATO_0002118multiple
http://purl.obolibrary.org/obo/PATO_0000470increased amount
http://purl.obolibrary.org/obo/PATO_0000467present
http://purl.obolibrary.org/obo/UBERON_0001509triceps brachii
http://purl.obolibrary.org/obo/UBERON_0004255forelimb stylopod muscle
http://purl.obolibrary.org/obo/CHEBI_46775N-alkylpyrrolidine
http://purl.obolibrary.org/obo/CHEBI_50996tertiary amino compound
HP:0007590Aplasia cutis congenita over posterior parietal area
HP:0004476Aplasia cutis congenita over parietal area
HP:0007385Aplasia cutis congenita of scalp
http://purl.obolibrary.org/obo/PATO_0002112perforate
http://purl.obolibrary.org/obo/PATO_0002014structure, cavities
http://purl.obolibrary.org/obo/UBERON_0001503dorsal interosseous of manus
http://purl.obolibrary.org/obo/UBERON_0001502interosseous muscle of manus
http://purl.obolibrary.org/obo/UBERON_0014375intrinsic muscle of manus
http://purl.obolibrary.org/obo/UBERON_0035112intrinsic muscle
http://purl.obolibrary.org/obo/UBERON_0006508interosseous muscle of autopod
HP:0007583Telangiectasia macularis eruptiva perstans
HP:0007581Mediosternal, longitudinal streak of hypopigmentation
HP:0007535Hypopigmented streaks
HP:0007588Reticular hyperpigmentation
HP:0007587Numerous pigmented freckles
HP:0007586Telangiectases producing 'marbled' skin
HP:0007585Skin fragility with non-scarring blistering
HP:0001030Fragile skin
HP:0007589Aplasia cutis congenita on trunk or limbs
HP:0001057Aplasia cutis congenita
HP:0008065Aplasia/Hypoplasia of the skin
http://purl.obolibrary.org/obo/UBERON_0001517skin of elbow
HP:0032595Renal tubular epithelial cell detachment
http://purl.obolibrary.org/obo/UBERON_0001516abdominal aorta
HP:0032594Renal tubular basement membrane denudation
HP:0032593Myoglobin casts
HP:0031199Acellular urinary casts
HP:0012615Cylindruria
http://purl.obolibrary.org/obo/UBERON_0001518skin of wrist
HP:0032592Aplasia of the right hemidiaphragm
HP:0000776Congenital diaphragmatic hernia
HP:0100790Hernia
HP:0032598Blebbing of apical cytoplasm of renal tubular epithelial cells
HP:0032597Renal tubular epithelial cell sloughing
HP:0032596Renal tubular epithelial cell cytoplasmic vacuolization
http://purl.obolibrary.org/obo/UBERON_0001510skin of knee
http://purl.obolibrary.org/obo/UBERON_0001511skin of leg
HP:0032591Renal interstitial hemosiderin
HP:0032590Renal neutrophilic tubulitis
http://purl.obolibrary.org/obo/UBERON_0025525motor system
http://purl.obolibrary.org/obo/UBERON_0023879neural system
http://purl.obolibrary.org/obo/UBERON_0001514descending aorta
HP:0007595Redundant skin in infancy
HP:0007599Generalized reticulate brown pigmentation
HP:0007440Generalized hyperpigmentation
HP:0007598Bilateral single transverse palmar creases
HP:0000954Single transverse palmar crease
HP:0010490Abnormality of the palmar creases
HP:0007597Congenital palmoplantar keratodermia
HP:0007596Painful subcutaneous lipomas
HP:0001031Subcutaneous lipoma
HP:0001012Multiple lipomas
http://purl.obolibrary.org/obo/UBERON_0001528radio-ulnar joint
HP:0032584Renal interstitial neutrophil infiltration
HP:0032583Renal glomerular foam cells
HP:0032582Renal interstitial foam cells
HP:0032588Hand apraxia
HP:0032587Renal interstitial calcium oxalate
HP:0032586Renal interstitial plasma cell infiltration
HP:0032585Renal interstitial eosinophil infiltration
http://purl.obolibrary.org/obo/CHEBI_1916817-oxo steroid
HP:0032580Abnormal bulbus cordis morphology
http://purl.obolibrary.org/obo/PATO_0002135delayed closure
http://purl.obolibrary.org/obo/PATO_0000502delayed
http://purl.obolibrary.org/obo/UBERON_0013508thoracic vertebra pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0013509lumbar vertebra cartilage element
http://purl.obolibrary.org/obo/UBERON_0013506cervical vertebra pre-cartilage condensation
http://purl.obolibrary.org/obo/PATO_0002142bracket
http://purl.obolibrary.org/obo/PATO_0002141irregular density
http://purl.obolibrary.org/obo/PATO_0001019mass density
http://purl.obolibrary.org/obo/UBERON_0013507thoracic vertebra cartilage element
http://purl.obolibrary.org/obo/UBERON_0015008thoracic vertebra endochondral element
http://purl.obolibrary.org/obo/UBERON_0013501cloacal sphincter
http://purl.obolibrary.org/obo/UBERON_0014783cloacal muscle
HP:0032589Renal lymphocytic tubulitis
http://purl.obolibrary.org/obo/UBERON_0013504caudal vertebra pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0013505cervical vertebra cartilage element
http://purl.obolibrary.org/obo/UBERON_0015007cervical vertebra endochondral element
http://purl.obolibrary.org/obo/UBERON_0013503caudal vertebra cartilage element
http://purl.obolibrary.org/obo/UBERON_0011094vertebra cartilage element
http://purl.obolibrary.org/obo/UBERON_2001457postcranial axial cartilage
HP:0032573Elevated urinary cytidine
HP:0032571Increased oocyte death
HP:0032570Pontine ischemic lacunes
HP:0032325Lacunar stroke
HP:0002140Ischemic stroke
HP:0002637Cerebral ischemia
HP:0009145Abnormal cerebral artery morphology
HP:0001297Stroke
HP:0032577Clonal T cell receptor rearrangement
HP:0032576Intracellular accumulation of Dol-PP-GlcNAc2Man5
HP:0032575Decreased circulating 12-HETE
HP:0032574Elevated uridine in urine
HP:0032572Abnormal urinary nucleobase concentration
http://purl.obolibrary.org/obo/UBERON_0001531right common carotid artery plus branches
http://purl.obolibrary.org/obo/UBERON_0001532internal carotid artery
http://purl.obolibrary.org/obo/UBERON_0001535vertebral artery
http://purl.obolibrary.org/obo/UBERON_0002458spinal artery
http://purl.obolibrary.org/obo/UBERON_0001534right subclavian artery
http://purl.obolibrary.org/obo/UBERON_0001533subclavian artery
http://purl.obolibrary.org/obo/PATO_0002124laminar
http://purl.obolibrary.org/obo/UBERON_0001536left common carotid artery plus branches
http://purl.obolibrary.org/obo/UBERON_0001530common carotid artery plus branches
HP:0032579Vascular hamartoma
http://purl.obolibrary.org/obo/UBERON_0013510lumbar vertebra pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0015009lumbar vertebra endochondral element
http://purl.obolibrary.org/obo/UBERON_0011095vertebra pre-cartilage condensation
HP:0032578Third ventricle colloid cyst
HP:0010951Abnormality of the third ventricle
http://purl.obolibrary.org/obo/UBERON_0013514space surrounding organism
http://purl.obolibrary.org/obo/NBO_0000417physiologic nystagmus
http://purl.obolibrary.org/obo/NBO_0000416vestibulo-ocular reflex
http://purl.obolibrary.org/obo/NBO_0000411cranial nerve related reflex
http://purl.obolibrary.org/obo/NBO_0000389reflexive behavior
http://purl.obolibrary.org/obo/NBO_0000388involuntary movement behavior
http://purl.obolibrary.org/obo/NBO_0000403voluntary movement behavior
http://purl.obolibrary.org/obo/NBO_0000001body part movement
http://purl.obolibrary.org/obo/NBO_0000338kinesthetic behavior
http://purl.obolibrary.org/obo/GO_0050882voluntary musculoskeletal movement
http://purl.obolibrary.org/obo/GO_0050881musculoskeletal movement
http://purl.obolibrary.org/obo/GO_0050879multicellular organismal movement
http://purl.obolibrary.org/obo/CHEBI_22727benzopyran
http://purl.obolibrary.org/obo/CHEBI_38104oxacycle
http://purl.obolibrary.org/obo/PR_Q615035'-nucleotidase (mouse)
http://purl.obolibrary.org/obo/PR_0000018005'-nucleotidase
http://purl.obolibrary.org/obo/NBO_0000420bruxism
http://purl.obolibrary.org/obo/NBO_0000499NREM parasomnia
http://purl.obolibrary.org/obo/NBO_0000493parasomnia
http://purl.obolibrary.org/obo/CHEBI_22744benzyl group
http://purl.obolibrary.org/obo/CHEBI_33452benzylic group
http://purl.obolibrary.org/obo/CHEBI_46701pyrrolidinemonocarboxylic acid
http://purl.obolibrary.org/obo/CHEBI_46767pyrrolidinecarboxylic acid
http://purl.obolibrary.org/obo/CHEBI_38260pyrrolidines
http://purl.obolibrary.org/obo/CHEBI_20106vanillylmandelic acid
http://purl.obolibrary.org/obo/CHEBI_35618aromatic ether
http://purl.obolibrary.org/obo/CHEBI_25698ether
http://purl.obolibrary.org/obo/CHEBI_493022-hydroxy monocarboxylic acid
HP:0007709Band-shaped corneal dystrophy
HP:0007708Absent inner eyelashes
HP:0007707Congenital aphakia
http://purl.obolibrary.org/obo/GO_1901860positive regulation of mitochondrial DNA metabolic process
http://purl.obolibrary.org/obo/GO_0051054positive regulation of DNA metabolic process
http://purl.obolibrary.org/obo/GO_0045935positive regulation of nucleobase-containing compound metabolic process
http://purl.obolibrary.org/obo/GO_1901859negative regulation of mitochondrial DNA metabolic process
http://purl.obolibrary.org/obo/GO_0051053negative regulation of DNA metabolic process
http://purl.obolibrary.org/obo/GO_0045934negative regulation of nucleobase-containing compound metabolic process
http://purl.obolibrary.org/obo/GO_1901858regulation of mitochondrial DNA metabolic process
http://purl.obolibrary.org/obo/GO_0051052regulation of DNA metabolic process
HP:0007705Corneal degeneration
HP:0007704Paroxysmal involuntary eye movements
http://purl.obolibrary.org/obo/GO_1901857positive regulation of cellular respiration
http://purl.obolibrary.org/obo/GO_1901856negative regulation of cellular respiration
http://purl.obolibrary.org/obo/GO_0043457regulation of cellular respiration
http://purl.obolibrary.org/obo/GO_0043467regulation of generation of precursor metabolites and energy
HP:0007710Peripheral vitreous opacities
HP:0007717Chronic irritative conjunctivitis
HP:0007716Uveal melanoma
HP:0002861Melanoma
HP:0007715Weak extraocular muscles
http://purl.obolibrary.org/obo/GO_0032092positive regulation of protein binding
http://purl.obolibrary.org/obo/GO_0051099positive regulation of binding
HP:0007720Flat cornea
HP:0100691Abnormality of the curvature of the cornea
http://purl.obolibrary.org/obo/GO_0032098regulation of appetite
http://purl.obolibrary.org/obo/GO_0046676negative regulation of insulin secretion
http://purl.obolibrary.org/obo/GO_0090278negative regulation of peptide hormone secretion
http://purl.obolibrary.org/obo/GO_0050709negative regulation of protein secretion
http://purl.obolibrary.org/obo/GO_0002792negative regulation of peptide secretion
http://purl.obolibrary.org/obo/GO_0051224negative regulation of protein transport
http://purl.obolibrary.org/obo/GO_1904950negative regulation of establishment of protein localization
HP:0007721Saccular conjunctival dilatations
HP:0008054Abnormal morphology of the conjunctival vasculature
HP:0007728Congenital miosis
HP:0000616Miosis
HP:0000615Abnormal pupil morphology
HP:0007727Opacification of the corneal epithelium
http://purl.obolibrary.org/obo/GO_0032091negative regulation of protein binding
http://purl.obolibrary.org/obo/GO_0051100negative regulation of binding
http://purl.obolibrary.org/obo/GO_0043393regulation of protein binding
http://purl.obolibrary.org/obo/GO_0051098regulation of binding
HP:0007731Chorioretinal dysplasia
HP:0007730Iris hypopigmentation
HP:0007734Enlarged lacrimal glands
HP:0007733Laterally curved eyebrow
HP:0007732Lacrimal gland hypoplasia
HP:0008038Aplastic/hypoplastic lacrimal glands
HP:0011482Abnormal lacrimal gland morphology
HP:0007738Uncontrolled eye movements
HP:0007737Bone spicule pigmentation of the retina
http://purl.obolibrary.org/obo/GO_0046661male sex differentiation
http://www.informatics.jax.org/marker/MGI:103011Ccr7 (mouse)
http://purl.obolibrary.org/obo/GO_0046621negative regulation of organ growth
http://purl.obolibrary.org/obo/GO_0048640negative regulation of developmental growth
http://purl.obolibrary.org/obo/GO_0045926negative regulation of growth
http://purl.obolibrary.org/obo/GO_0046622positive regulation of organ growth
http://purl.obolibrary.org/obo/GO_0046620regulation of organ growth
http://purl.obolibrary.org/obo/GO_0048639positive regulation of developmental growth
http://purl.obolibrary.org/obo/GO_0048638regulation of developmental growth
http://purl.obolibrary.org/obo/GO_0045927positive regulation of growth
http://purl.obolibrary.org/obo/GO_0040008regulation of growth
http://purl.obolibrary.org/obo/GO_0010694positive regulation of alkaline phosphatase activity
http://purl.obolibrary.org/obo/GO_0007059chromosome segregation
HP:0005121Posterior scalloping of vertebral bodies
http://purl.obolibrary.org/obo/PATO_0002283decreased mobility
http://purl.obolibrary.org/obo/PATO_0002282increased mobility
http://purl.obolibrary.org/obo/PATO_0000299mobile
http://purl.obolibrary.org/obo/PATO_0000004mobility
HP:0007780Cortical pulverulent cataract
HP:0010693Pulverulent cataract
http://purl.obolibrary.org/obo/PATO_0002281biscupidate
HP:0005129Congenital hypertrophy of left ventricle
HP:0001712Left ventricular hypertrophy
HP:0001714Ventricular hypertrophy
HP:0032724Focal impaired awareness tonic seizure
HP:0032723Focal motor aware seizure with dystonia
HP:0032722Focal aware tonic seizure
HP:0011167Focal tonic seizure
HP:0032728Focal impaired awareness atonic seizure
HP:0020220Focal atonic seizure
HP:0032726Focal impaired awareness hyperkinetic seizure
http://purl.obolibrary.org/obo/UBERON_0013493abdominal fascia
http://purl.obolibrary.org/obo/UBERON_0013491cervical fascia
http://purl.obolibrary.org/obo/UBERON_0008982fascia
http://purl.obolibrary.org/obo/PATO_0002265behavioural activity
http://purl.obolibrary.org/obo/PATO_0000186behavioral quality
http://purl.obolibrary.org/obo/PATO_0001995organismal quality
http://purl.obolibrary.org/obo/PATO_00022663-D shape
HP:0005132Pericardial constriction
HP:0007793Granular macular appearance
HP:0005133Right ventricular dilatation
http://purl.obolibrary.org/obo/PATO_0002271decreased accumulation
HP:0007792Microsaccadic pursuit
HP:0005134Absence of the pulmonary valve
HP:0007791Patchy atrophy of the retinal pigment epithelium
HP:0007722Retinal pigment epithelial atrophy
HP:0032719Focal motor impaired awareness seizure with dysarthria/anarthria
http://purl.obolibrary.org/obo/CHEBI_68485alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp
http://purl.obolibrary.org/obo/CHEBI_60948alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-D-Glc
http://purl.obolibrary.org/obo/CHEBI_27150trisaccharide
HP:0007797Retinal vascular malformation
http://purl.obolibrary.org/obo/PATO_0002270increased accumulation
http://purl.obolibrary.org/obo/PATO_0002269accumulation
http://purl.obolibrary.org/obo/PATO_0000141structure
HP:0007795Anterior cortical cataract
HP:0032713Focal motor impaired awareness seizure with version
http://purl.obolibrary.org/obo/GO_0010693negative regulation of alkaline phosphatase activity
http://purl.obolibrary.org/obo/GO_0010692regulation of alkaline phosphatase activity
http://purl.obolibrary.org/obo/UBERON_0013498vestibulo-cochlear VIII ganglion complex
HP:0007799Conjunctival whitish salt-like deposits
HP:0032710Focal aware cognitive seizure with receptive dysphasia/aphasia
HP:0005136Mitral annular calcification
HP:0004382Mitral valve calcification
HP:0001633Abnormal mitral valve morphology
HP:0032717Focal motor impaired awareness seizure with dystonia
HP:0032718Focal motor seizure with dystonia
HP:0032714Focal impaired awareness bilateral motor seizure
http://purl.obolibrary.org/obo/GO_0007076mitotic chromosome condensation
http://purl.obolibrary.org/obo/PATO_0002298increased cellular motility
http://purl.obolibrary.org/obo/PATO_0002297decreased cellular motility
http://purl.obolibrary.org/obo/PATO_0001488cellular motility
http://purl.obolibrary.org/obo/PATO_0001396cellular quality
HP:0005143Anomalous origin of right pulmonary artery from ascending aorta
HP:0011660Anomalous origin of one pulmonary artery from ascending aorta
HP:0032709Focal aware cognitive seizure with dysgraphia/agraphia
HP:0005144Ventricular septal hypertrophy
HP:0005145Coronary artery stenosis
HP:0032708Focal aware cognitive seizure with anomia
HP:0005146Cardiac valve calcification
HP:0032707Focal aware cognitive seizure with dyslexia/alexia
http://purl.obolibrary.org/obo/GO_0071695anatomical structure maturation
http://purl.obolibrary.org/obo/GO_0021700developmental maturation
HP:0005147Bidirectional ventricular ectopy
HP:0032706Focal aware cognitive seizure with left-right confusion
HP:0005148Pulmonary valve defects
HP:0032705Focal aware cognitive seizure with forced thinking
HP:0032704Focal aware cognitive seizure with illusion
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2558CX3CR1 (human)
HP:0005160Total anomalous pulmonary venous return
HP:0010772Anomalous pulmonary venous return
http://purl.obolibrary.org/obo/PATO_0002287increased elasticity
http://purl.obolibrary.org/obo/GO_2000845positive regulation of testosterone secretion
http://purl.obolibrary.org/obo/PATO_0002288decreased elasticity
http://purl.obolibrary.org/obo/PATO_0001171elastic
http://purl.obolibrary.org/obo/PATO_0001031elasticity
http://purl.obolibrary.org/obo/GO_2000844negative regulation of testosterone secretion
http://purl.obolibrary.org/obo/GO_2000843regulation of testosterone secretion
HP:0005155Ventricular escape rhythm
HP:0004308Ventricular arrhythmia
HP:0005156Hypoplastic left atrium
HP:0025579Abnormal left atrium morphology
HP:0004383Hypoplastic left heart
HP:0001961Hypoplastic heart
HP:0045017Congenital malformation of the left heart
HP:0005157Concentric hypertrophic cardiomyopathy
HP:0001639Hypertrophic cardiomyopathy
http://purl.obolibrary.org/obo/PATO_0002290aplastic/hypoplastic
HP:0005151Preductal coarctation of the aorta
HP:0012305Coarctation of the descending aortic arch
HP:0001680Coarctation of aorta
HP:0005152Histiocytoid cardiomyopathy
HP:0001638Cardiomyopathy
http://purl.obolibrary.org/obo/PATO_0002291agenesis
http://purl.obolibrary.org/obo/PATO_0000462absent
http://purl.obolibrary.org/obo/PATO_0000070amount
HP:0030101Absent muscle fiber alpha sarcoglycan
HP:0030102Reduced muscle fiber alpha sarcoglycan
HP:0030100Abnormal muscle fiber alpha sarcoglycan
http://purl.obolibrary.org/obo/GO_0044089positive regulation of cellular component biogenesis
HP:0032761Focal aware autonomic seizure with pallor/flushing
http://purl.obolibrary.org/obo/GO_0044087regulation of cellular component biogenesis
http://purl.obolibrary.org/obo/GO_0032024positive regulation of insulin secretion
http://purl.obolibrary.org/obo/GO_0090277positive regulation of peptide hormone secretion
http://purl.obolibrary.org/obo/GO_0050714positive regulation of protein secretion
http://purl.obolibrary.org/obo/GO_0051222positive regulation of protein transport
http://purl.obolibrary.org/obo/GO_1904951positive regulation of establishment of protein localization
http://purl.obolibrary.org/obo/GO_0002793positive regulation of peptide secretion
http://purl.obolibrary.org/obo/GO_0050796regulation of insulin secretion
http://purl.obolibrary.org/obo/GO_0050708regulation of protein secretion
http://purl.obolibrary.org/obo/GO_0051223regulation of protein transport
http://purl.obolibrary.org/obo/GO_0070201regulation of establishment of protein localization
http://purl.obolibrary.org/obo/GO_0090276regulation of peptide hormone secretion
http://purl.obolibrary.org/obo/GO_0002791regulation of peptide secretion
http://purl.obolibrary.org/obo/GO_0090087regulation of peptide transport
http://purl.obolibrary.org/obo/UBERON_0001465knee
http://purl.obolibrary.org/obo/UBERON_0001464hip
http://purl.obolibrary.org/obo/UBERON_0001467shoulder
http://purl.obolibrary.org/obo/UBERON_0001469sternoclavicular joint
http://purl.obolibrary.org/obo/UBERON_0001468intervertebral joint
http://purl.obolibrary.org/obo/UBERON_0001461elbow
http://purl.obolibrary.org/obo/UBERON_0001460arm
http://purl.obolibrary.org/obo/UBERON_0006058multi-limb segment region
http://purl.obolibrary.org/obo/GO_0071674mononuclear cell migration
http://purl.obolibrary.org/obo/GO_0050900leukocyte migration
http://purl.obolibrary.org/obo/GO_0016477cell migration
http://purl.obolibrary.org/obo/GO_0048870cell motility
http://purl.obolibrary.org/obo/GO_0040011locomotion
http://purl.obolibrary.org/obo/UBERON_0001463manual digit 1
HP:0007740Long eyelashes in irregular rows
HP:0030107Reduced muscle fiber beta sarcoglycan
http://purl.obolibrary.org/obo/GO_0071676negative regulation of mononuclear cell migration
http://purl.obolibrary.org/obo/GO_0002686negative regulation of leukocyte migration
http://purl.obolibrary.org/obo/GO_0030336negative regulation of cell migration
http://purl.obolibrary.org/obo/GO_2000146negative regulation of cell motility
http://purl.obolibrary.org/obo/GO_0051271negative regulation of cellular component movement
http://purl.obolibrary.org/obo/GO_0040013negative regulation of locomotion
HP:0032768Focal aware autonomic seizure with pupillary dilation/constriction
HP:0030108Reduced muscle fiber gamma sarcoglycan
HP:0030109Absent muscle fiber gamma sarcoglycan
http://purl.obolibrary.org/obo/GO_0071677positive regulation of mononuclear cell migration
http://purl.obolibrary.org/obo/GO_0071675regulation of mononuclear cell migration
http://purl.obolibrary.org/obo/GO_0002687positive regulation of leukocyte migration
http://purl.obolibrary.org/obo/GO_0030335positive regulation of cell migration
http://purl.obolibrary.org/obo/GO_2000147positive regulation of cell motility
http://purl.obolibrary.org/obo/GO_0051272positive regulation of cellular component movement
http://purl.obolibrary.org/obo/GO_0040017positive regulation of locomotion
http://purl.obolibrary.org/obo/GO_0002685regulation of leukocyte migration
http://purl.obolibrary.org/obo/GO_0030334regulation of cell migration
http://purl.obolibrary.org/obo/GO_2000145regulation of cell motility
http://purl.obolibrary.org/obo/GO_0040012regulation of locomotion
http://purl.obolibrary.org/obo/GO_0051270regulation of cellular component movement
HP:0030104Abnormal muscle fiber gamma sarcoglycan
HP:0007747Monocular horizontal nystagmus
HP:0032769Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration
HP:0030106Absent muscle fiber beta sarcoglycan
HP:0030103Abnormal muscle fiber beta sarcoglycan
HP:0032753Focal impaired awareness emotional seizure with agitation
HP:0032752Focal impaired awareness emotional seizure with fear/anxiety/panic
http://purl.obolibrary.org/obo/GO_0007088regulation of mitotic nuclear division
http://purl.obolibrary.org/obo/GO_0051783regulation of nuclear division
HP:0032751Focal impaired awareness emotional seizure with crying
HP:0032750Focal impaired awareness emotional seizure with laughing
http://purl.obolibrary.org/obo/UBERON_0001476deltoid
http://purl.obolibrary.org/obo/UBERON_0001479sesamoid bone
http://purl.obolibrary.org/obo/UBERON_0013631sesamoid element
http://purl.obolibrary.org/obo/UBERON_0010911ossicle
http://purl.obolibrary.org/obo/UBERON_0001470glenohumeral joint
http://purl.obolibrary.org/obo/GO_0032042mitochondrial DNA metabolic process
http://purl.obolibrary.org/obo/GO_0006259DNA metabolic process
http://purl.obolibrary.org/obo/GO_0090304nucleic acid metabolic process
http://purl.obolibrary.org/obo/GO_0006139nucleobase-containing compound metabolic process
http://purl.obolibrary.org/obo/UBERON_0001472vaginal venous plexus
http://purl.obolibrary.org/obo/UBERON_0001471skin of prepuce of penis
HP:0007750Hypoplasia of the fovea
HP:0008060Aplasia/Hypoplasia of the fovea
HP:0008059Aplasia/Hypoplasia of the macula
HP:0032757Focal aware hemiclonic seizure
HP:0007755Juvenile epithelial corneal dystrophy
HP:0200020Corneal erosion
http://purl.obolibrary.org/obo/UBERON_0013455spheno-petrosal fissure
HP:0032758Focal aware myoclonic seizure
http://purl.obolibrary.org/obo/GO_0044062regulation of excretion
HP:0032742Focal aware emotional seizure with pleasure
HP:0032741Focal aware emotional seizure with paranoia
http://purl.obolibrary.org/obo/GO_0044065regulation of respiratory system process
http://purl.obolibrary.org/obo/GO_0043576regulation of respiratory gaseous exchange
http://purl.obolibrary.org/obo/UBERON_0001486hip joint
http://purl.obolibrary.org/obo/UBERON_0001488ankle joint
HP:0007760Crystalline corneal dystrophy
HP:0005100Premature birth following premature rupture of fetal membranes
HP:0001788Premature rupture of membranes
HP:0005101High-frequency hearing impairment
HP:0005102Cochlear degeneration
HP:0000375Abnormal cochlea morphology
http://purl.obolibrary.org/obo/UBERON_0001483skin of shoulder
http://purl.obolibrary.org/obo/UBERON_0001485knee joint
http://purl.obolibrary.org/obo/UBERON_0001484articular capsule
HP:0007761Pericentral scotoma
HP:0007768Central retinal vessel vascular tortuosity
HP:0000631Retinal arterial tortuosity
HP:0012841Retinal vascular tortuosity
HP:0032745Focal aware emotional seizure with laughing
HP:0010821Focal emotional seizure with laughing
HP:0007766Optic disc hypoplasia
HP:0008058Aplasia/Hypoplasia of the optic nerve
HP:0032744Focal aware emotional seizure with agitation
HP:0032727Focal emotional seizure with agitation
HP:0005109Abnormality of the Achilles tendon
HP:0001430Abnormality of the calf musculature
HP:0007765Deep anterior chamber
HP:0032743Focal aware emotional seizure with crying
HP:0010820Focal emotional seizure with crying
HP:0005103Calcification of the auricular cartilage
HP:3000022Abnormality of cartilage of external ear
HP:0032749Focal impaired awareness emotional seizure with paranoia
HP:0005104Hypoplastic nasal septum
HP:0032748Focal impaired awareness emotional seizure with anger
HP:0032747Focal impaired awareness emotional seizure with pleasure
HP:0032729Focal emotional seizure with pleasure
HP:0032746Focal impaired awareness emotional seizure
HP:0032731Focal aware hyperkinetic seizure
HP:0011174Focal hyperkinetic seizure
HP:0032730Focal impaired awareness myoclonic seizure
HP:0011166Focal myoclonic seizure
http://purl.obolibrary.org/obo/UBERON_0013472upper esophagus
http://purl.obolibrary.org/obo/UBERON_0001497muscle of pelvic girdle
http://purl.obolibrary.org/obo/UBERON_0001499muscle of arm
HP:0005110Atrial fibrillation
HP:0001692Atrial arrhythmia
http://purl.obolibrary.org/obo/UBERON_0001490elbow joint
http://purl.obolibrary.org/obo/GO_0032060bleb assembly
http://purl.obolibrary.org/obo/GO_0120031plasma membrane bounded cell projection assembly
HP:0007770Hypoplasia of the retina
HP:0008061Aplasia/Hypoplasia of the retina
HP:0008057Aplasia/Hypoplasia affecting the fundus
HP:0005112Abdominal aortic aneurysm
http://purl.obolibrary.org/obo/UBERON_0001492radial nerve
HP:0005113Aortic arch aneurysm
HP:0012727Thoracic aortic aneurysm
HP:0004942Aortic aneurysm
http://purl.obolibrary.org/obo/UBERON_0001491wrist joint
http://purl.obolibrary.org/obo/UBERON_0001493axillary nerve
HP:0007774Hypoplasia of the ciliary body
HP:0012776Abnormal ciliary body morphology
http://purl.obolibrary.org/obo/UBERON_0001496ascending aorta
http://purl.obolibrary.org/obo/UBERON_0001515thoracic aorta
HP:0007772Impaired smooth pursuit
HP:0007779Anterior segment of eye aplasia
HP:0032735Focal aware emotional seizure with anger
http://purl.obolibrary.org/obo/UBERON_0013479lung endothelium
HP:0007778Posterior retinal neovascularization
HP:0007777Chorioretinal scar
HP:0100699Scarring
HP:0032733Focal motor aware seizure with dysarthria/anarthria
HP:0032720Focal motor seizure with dysarthria/anarthria
HP:0007776Sparse lower eyelashes
HP:0032732Focal motor aware seizure with paresis/paralysis
HP:0005115Supraventricular arrhythmia
HP:0032738Focal aware emotional seizure with fear/anxiety/panic
HP:0032734Focal aware emotional seizure
HP:0032739Focal emotional seizure with fear/anxiety/panic
HP:0032737Focal emotional seizure with paranoia
HP:0005117Elevated diastolic blood pressure
HP:0032263Increased blood pressure
HP:0032736Focal emotional seizure with anger
HP:0025613Focal emotional seizure
HP:0030022Question mark ear
HP:0030023Quelprud nodule
http://purl.obolibrary.org/obo/UBERON_0001428intermedium
HP:0030024Pretragal ectopia
HP:0030025Auricular pit
HP:0032686Focal aware cognitive seizure with memory impairment
HP:0030021Auricular tag
HP:0032684Focal aware cognitive seizure with auditory agnosia
http://purl.obolibrary.org/obo/UBERON_0001421pectoral girdle region
HP:0005092Streaky metaphyseal sclerosis
http://purl.obolibrary.org/obo/UBERON_0001423radius bone
http://purl.obolibrary.org/obo/UBERON_0015001radius endochondral element
HP:0005093Absent proximal radial epiphyses
http://purl.obolibrary.org/obo/UBERON_0001422facial lymphatic vessel
http://purl.obolibrary.org/obo/UBERON_0001425pectoral lymphatic vessel
http://purl.obolibrary.org/obo/UBERON_0001424ulna
http://purl.obolibrary.org/obo/UBERON_0015003ulna endochondral element
http://purl.obolibrary.org/obo/UBERON_0001427radiale
http://purl.obolibrary.org/obo/UBERON_0001480proximal carpal bone
http://purl.obolibrary.org/obo/GO_0009636response to toxic substance
HP:0005090Lateral femoral bowing
HP:0005084Anterior radial head dislocation
HP:0005085Limited knee flexion/extension
HP:0006389Limited knee flexion
HP:0005086Knee osteoarthritis
HP:0032688Focal aware cognitive seizure with dissociation
HP:0030026Squared superior portion of helix
HP:0011039Abnormality of the helix
HP:0030028Absent nasal cartilage
HP:0030027Abnormality of the nasal cartilage
HP:0030029Splayed fingers
HP:0030011Imperforate hymen
HP:0032672Autonomic status epilepticus
HP:0032670Tonic status epilepticus
HP:0032676Chronic cutaneous wound
HP:0032675Acute cutaneous wound
HP:0032674Cutaneous wound
HP:0030010Hydrometrocolpos
http://purl.obolibrary.org/obo/UBERON_0001432distal carpal bone 3
http://purl.obolibrary.org/obo/UBERON_0001431distal carpal bone 2
http://purl.obolibrary.org/obo/UBERON_0001434skeletal system
http://purl.obolibrary.org/obo/UBERON_0001433distal carpal bone 4
http://purl.obolibrary.org/obo/UBERON_0001438metaphysis
HP:0005099Severe hydrops fetalis
HP:0001789Hydrops fetalis
http://purl.obolibrary.org/obo/GO_0009617response to bacterium
http://purl.obolibrary.org/obo/CHEBI_32457cysteinate(2-)
http://purl.obolibrary.org/obo/CHEBI_32458cysteinium
HP:0005096Distal femoral bowing
HP:0002980Femoral bowing
HP:0002979Bowing of the legs
http://purl.obolibrary.org/obo/UBERON_0001430distal carpal bone 1
http://purl.obolibrary.org/obo/UBERON_0001481distal carpal bone
http://purl.obolibrary.org/obo/UBERON_0001435carpal bone
http://purl.obolibrary.org/obo/CHEBI_32456cysteinate(1-)
http://purl.obolibrary.org/obo/CHEBI_63470sulfur-containing amino-acid anion
HP:0030019Increased female libido
HP:0032678Eyelid myoclonia seizure
HP:0002123Generalized myoclonic seizure
http://purl.obolibrary.org/obo/UBERON_0013411cranial cavity
HP:0030015Female anorgasmia
HP:0030016Dyspareunia
HP:0030017Vaginismus
HP:0030018Decreased female libido
HP:0030014Female sexual dysfunction
HP:0030000EMG: repetitive nerve stimulation abnormality
HP:0032661Generalized convulsive status epilepticus
HP:0025190Bilateral tonic-clonic seizure with generalized onset
HP:0030002Nocturnal lagophthalmos
HP:0030003Paralytic lagophthalmos
HP:0032665Repeated focal motor seizures
HP:0032664Adversive status epilepticus
HP:0032662Focal-onset seizure evolving into bilateral convulsive status epilepticus
HP:0032660Convulsive status epilepticus
HP:0002069Bilateral tonic-clonic seizure
http://purl.obolibrary.org/obo/UBERON_0001443chest
http://purl.obolibrary.org/obo/UBERON_0009569subdivision of trunk
http://purl.obolibrary.org/obo/UBERON_0001442skeleton of manus
http://purl.obolibrary.org/obo/UBERON_0001445skeleton of pes
http://purl.obolibrary.org/obo/UBERON_0006717autopodial skeleton
http://purl.obolibrary.org/obo/UBERON_0001446fibula
http://purl.obolibrary.org/obo/UBERON_0015013fibula endochondral element
http://purl.obolibrary.org/obo/UBERON_0004251hindlimb zeugopod bone
http://purl.obolibrary.org/obo/PATO_0002212slender
http://purl.obolibrary.org/obo/NBO_0000712hypoglycemia induced seizure
http://purl.obolibrary.org/obo/GO_0022603regulation of anatomical structure morphogenesis
http://purl.obolibrary.org/obo/GO_0022601menstrual cycle phase
http://purl.obolibrary.org/obo/UBERON_0001441hindlimb skeleton
http://purl.obolibrary.org/obo/UBERON_0007273pelvic appendage skeleton
http://purl.obolibrary.org/obo/UBERON_0001440forelimb skeleton
http://purl.obolibrary.org/obo/UBERON_0007272pectoral appendage skeleton
http://purl.obolibrary.org/obo/UBERON_0004381skeleton of limb
http://purl.obolibrary.org/obo/UBERON_0011582paired limb/fin skeleton
HP:0030008Cervical agenesis
HP:0032669Myoclonic status epilepticus with coma
http://purl.obolibrary.org/obo/UBERON_0013424anatomical point connecting sagittal and lambdoidal sutures
http://purl.obolibrary.org/obo/UBERON_0006983anatomical point
HP:0030009Cervical insufficiency
HP:0032668Myoclonic status epilepticus without coma
HP:0032667Myoclonic status epilepticus
HP:0032666Hyperkinetic status epilepticus
HP:0030004Cicatricial lagophthalmos
HP:0030001Lagopthalmos
HP:0030005Capillary leak
HP:0025018Abnormal capillary physiology
HP:0030007EMG: positive sharp waves
http://purl.obolibrary.org/obo/GO_0010623programmed cell death involved in cell development
HP:0032650Elevated CSF glial fibrillary acidic protein level
HP:0032654Impaired flow-mediated arterial dilatation
HP:0032653Elevated lactate:pyruvate ratio
HP:0032652Elevated CSF chitotriosidase 1 level
HP:0032651Elevated CSF chitinase-3-like protein 1 level
http://purl.obolibrary.org/obo/UBERON_0001456face
http://purl.obolibrary.org/obo/UBERON_0001458skin of lip
http://purl.obolibrary.org/obo/UBERON_0001457skin of eyelid
http://purl.obolibrary.org/obo/UBERON_0001459skin of external ear
http://purl.obolibrary.org/obo/NBO_0000702atypical absence seizure
http://purl.obolibrary.org/obo/UBERON_0001450calcaneus
http://purl.obolibrary.org/obo/UBERON_0015014calcaneum endochondral element
http://purl.obolibrary.org/obo/UBERON_0011679proximal tarsal bone
http://purl.obolibrary.org/obo/UBERON_0014395proximal mesopodial bone
http://purl.obolibrary.org/obo/UBERON_0001452distal tarsal bone 1
http://purl.obolibrary.org/obo/UBERON_0010721distal tarsal bone
http://purl.obolibrary.org/obo/UBERON_0018102distal mesopodial bone
http://purl.obolibrary.org/obo/UBERON_0001451navicular bone of pes
http://purl.obolibrary.org/obo/UBERON_0012131centrale
http://purl.obolibrary.org/obo/UBERON_0001447tarsal bone
HP:0032657Elevated circulating lyso-globotriaosylsphingosine concentration
HP:0032656Febrile status epilepticus
HP:0011172Complex febrile seizure
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0032655Decreased adipose tissue tocopherol level
HP:0032659Non-convulsive status epilepticus with coma
HP:0030066Ependymoblastoma
HP:0030068Olfactory esthesioneuroblastoma
HP:0030069Primary central nervous system lymphoma
HP:0030062Craniopharyngioma
HP:0030064Neurocytoma
HP:0005050Anterolateral radial head dislocation
HP:0005045Diaphyseal cortical sclerosis
HP:0005041Irregular capital femoral epiphysis
HP:0006361Irregular femoral epiphysis
HP:0005042Irregular, rachitic-like metaphyses
HP:0005043Proximal humeral metaphyseal irregularity
HP:0003913Humeral metaphyseal irregularity
HP:0003850Upper-limb metaphyseal irregularity
HP:0005048Synostosis of carpal bones
HP:0030055Hyperconvex toenail
HP:0001795Hyperconvex nail
HP:0030056Uncombable hair
HP:0030058Sickled erythrocytes
HP:0030051Tip-toe gait
HP:0030052Inguinal freckling
HP:0001480Freckling
HP:0030053Stiff skin
HP:0030054Perifollicular fibrosis
HP:0031285Abnormal perifollicular morphology
HP:0005060Limited elbow flexion/extension
HP:0006376Limited elbow flexion
HP:0030050Narcolepsy
http://purl.obolibrary.org/obo/GO_0007006mitochondrial membrane organization
http://purl.obolibrary.org/obo/GO_0007005mitochondrion organization
http://purl.obolibrary.org/obo/GO_0034613cellular protein localization
http://purl.obolibrary.org/obo/GO_0070727cellular macromolecule localization
HP:0005054Metaphyseal spurs
HP:0030059Mitochondrial depletion
HP:0005059Arthralgia/arthritis
HP:0002829Arthralgia
HP:0030045Serpentine fibula
HP:0030046Hypoglycosylation of alpha-dystroglycan
http://purl.obolibrary.org/obo/GO_0010677negative regulation of cellular carbohydrate metabolic process
http://purl.obolibrary.org/obo/GO_0045912negative regulation of carbohydrate metabolic process
HP:0030040Fused lumbar vertebrae
HP:0030041Schmorl's node
HP:0030042Incomplete ossification of pubis
HP:0009105Abnormal ossification of the pubic bone
HP:0009106Abnormal pelvis bone ossification
HP:0030043Hip subluxation
http://purl.obolibrary.org/obo/PATO_0002257multicuspidate
http://purl.obolibrary.org/obo/PATO_0001973cuspidate
http://purl.obolibrary.org/obo/PATO_0001500tapered
http://purl.obolibrary.org/obo/PATO_0001419sharp
http://purl.obolibrary.org/obo/PATO_0000944sharpness
HP:0005070Proximal radial head dislocation
http://purl.obolibrary.org/obo/GO_0007036vacuolar calcium ion homeostasis
http://purl.obolibrary.org/obo/GO_0006874cellular calcium ion homeostasis
http://purl.obolibrary.org/obo/GO_0072503cellular divalent inorganic cation homeostasis
http://purl.obolibrary.org/obo/GO_0006875cellular metal ion homeostasis
http://purl.obolibrary.org/obo/GO_0055074calcium ion homeostasis
HP:0005072Hyperextensibility at wrists
http://purl.obolibrary.org/obo/PATO_0002254flattened
http://purl.obolibrary.org/obo/PATO_0001591curvature
http://purl.obolibrary.org/obo/PATO_0002255grooved
http://purl.obolibrary.org/obo/PATO_0000150texture
HP:0005066Cone-shaped epiphyses fused within their metaphyses
HP:0010579Cone-shaped epiphysis
HP:0005067Proximal fibular overgrowth
HP:0010594Abnormality of the proximal fibular epiphysis
HP:0010593Abnormality of fibular epiphyses
HP:0005068Absent styloid process of ulna
HP:0004035Abnormality of the styloid process of ulna
HP:0010600Abnormality of the distal ulnar epiphysis
HP:0004037Abnormality of the ulnar epiphyses
HP:0005069Rhizo-meso-acromelic limb shortening
HP:0008905Rhizomelia
HP:0008873Disproportionate short-limb short stature
HP:0005063Fragmented, irregular epiphyses
HP:0010582Irregular epiphyses
HP:0100168Fragmented epiphyses
HP:0030048Colpocephaly
HP:0030047Abnormality of lateral ventricle
HP:0030049Brain abscess
HP:0011450Unusual CNS infection
HP:0032158Unusual infection by anatomical site
HP:0030033Small finger
http://purl.obolibrary.org/obo/UBERON_0001418skin of thorax
HP:0030034Diffuse glomerular basement membrane lamellation
http://purl.obolibrary.org/obo/UBERON_0001417skin of neck
HP:0030035Struvite nephrolithiasis
HP:0000787Nephrolithiasis
HP:0030036Isothenuria
HP:0030030Absent ray
HP:0030031Small toe
HP:0030032Partial absence of foot
http://purl.obolibrary.org/obo/PATO_0002246decreased force
HP:0032690Focal aware cognitive seizure with dyscalculia/acalculia
http://purl.obolibrary.org/obo/PATO_0002245increased force
http://purl.obolibrary.org/obo/PATO_0001035force
http://purl.obolibrary.org/obo/UBERON_0001416skin of abdomen
http://purl.obolibrary.org/obo/UBERON_0001415skin of pelvis
HP:0030037Bifid ureter
HP:0000073Ureteral duplication
HP:0030039Fused thoracic vertebrae
HP:0030099Reduced muscle fiber alpha dystroglycan
HP:0030095Reduced muscle collagen VI
HP:0030097Absent muscle dystrophin expression
HP:0030098Reduced muscle dystrophin expression
HP:0030096Abnormal muscle fiber dystrophin expression
HP:0030091Absent muscle fiber merosin
HP:0030092Reduced muscle fiber merosin
HP:0030094Reduced muscle fiber laminin beta 1
HP:0030093Abnormal muscle fiber laminin beta 1
HP:0030090Abnormal muscle fiber merosin expression
http://purl.obolibrary.org/obo/NBO_0000767memory behavior behavior
http://purl.obolibrary.org/obo/NBO_0000765learning and/or memory behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000762copulation phenotype
HP:0030088Increased serum testosterone level
HP:0030086Reduced CSF lactate
HP:0030085Abnormal CSF lactate level
HP:0030080Burkitt lymphoma
HP:0030081Punctate periventricular T2 hyperintense foci
HP:0002518Abnormality of the periventricular white matter
HP:0002352Leukoencephalopathy
http://purl.obolibrary.org/obo/PR_P53566CCAAT/enhancer-binding protein alpha (mouse)
http://purl.obolibrary.org/obo/PR_000005307CCAAT/enhancer-binding protein alpha
HP:0030082Abnormal drinking behavior
HP:0030083Salt craving
http://purl.obolibrary.org/obo/PR_P41597C-C chemokine receptor type 2 (human)
http://purl.obolibrary.org/obo/PR_000001199C-C chemokine receptor type 2
HP:0030077Bronchial neoplasm
HP:0100552Neoplasm of the tracheobronchial system
HP:0030078Lung adenocarcinoma
HP:0030079Cervix cancer
HP:0010784Uterine neoplasm
HP:0032241Cervical neoplasm
HP:0030074Chemodectoma
HP:0030075Ductal carcinoma in situ
HP:0030076Lobular carcinoma in situ
HP:0030071Medulloepithelioma
HP:0030070Central primitive neuroectodermal tumor
HP:0030072Paranasal sinus neoplasm
HP:0012720Neoplasm of the nose
HP:0100630Neoplasia of the nasopharynx
http://purl.obolibrary.org/obo/NBO_0000739dacrystic epilepsy
http://purl.obolibrary.org/obo/NBO_0000738gelastic epilepsy
http://purl.obolibrary.org/obo/NBO_0000737photostimulation induced seizure
http://purl.obolibrary.org/obo/NBO_0000735hypocalcemia induced seizure
http://purl.obolibrary.org/obo/NBO_0000731hemiclonic seizure
http://www.informatics.jax.org/marker/MGI:97762Prl (mouse)
http://purl.obolibrary.org/obo/NBO_0000758sexual activity phenotype
http://purl.obolibrary.org/obo/GO_0009615response to virus
http://purl.obolibrary.org/obo/GO_0051707response to other organism
http://purl.obolibrary.org/obo/GO_0043207response to external biotic stimulus
http://purl.obolibrary.org/obo/NBO_0000756mating behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000755reproductive behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000754rapid eye movement sleep phenotype
http://purl.obolibrary.org/obo/NBO_0000419sleeping behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000474circadian behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000473rhythmic behavior phenotype
http://purl.obolibrary.org/obo/GO_0009607response to biotic stimulus
http://purl.obolibrary.org/obo/NBO_0000751perception behavior by means
http://purl.obolibrary.org/obo/CHEBI_32440alaninium
http://purl.obolibrary.org/obo/CHEBI_32439alaninate
http://purl.obolibrary.org/obo/NBO_0000741aggressive behavior by means
http://purl.obolibrary.org/obo/NBO_0000015aggressive behavior
http://purl.obolibrary.org/obo/PR_Q63994myeloid cell surface antigen CD33 (mouse)
http://purl.obolibrary.org/obo/PR_000001892CD33 molecule
HP:0007822Central retinal exudate
HP:0007820Lacrimal punctal atresia
HP:0007827Nodular corneal dystrophy
HP:0011494Generalized opacification of the cornea
HP:0007824Total ophthalmoplegia
http://purl.obolibrary.org/obo/PR_000048127PR:000048127 located_in GO:0005886
http://purl.obolibrary.org/obo/PR_P10721mast/stem cell growth factor receptor Kit (human)
http://purl.obolibrary.org/obo/PR_000002065mast/stem cell growth factor receptor
HP:0007830Adult-onset night blindness
HP:0007834Progressive cataract
HP:0007833Anterior chamber synechiae
HP:0007832Pigmentation of the sclera
HP:0007831Nonprogressive restrictive external ophthalmoplegia
HP:0007838Progressive ptosis
HP:0007836Mosaic corneal dystrophy
HP:0007835S-shaped palpebral fissures
HP:0007841Amyloid deposition in the vitreous humor
HP:0007840Long upper eyelashes
HP:0007843Attenuation of retinal blood vessels
HP:0007850Retinal vascular proliferation
http://purl.obolibrary.org/obo/GO_0046544development of secondary male sexual characteristics
HP:0007856Punctate opacification of the cornea
http://purl.obolibrary.org/obo/GO_0046543development of secondary female sexual characteristics
http://purl.obolibrary.org/obo/GO_0045136development of secondary sexual characteristics
HP:0007854Glaucomatous visual field defect
HP:0007859Congenital horizontal nystagmus
HP:0007858Chorioretinal lacunae
http://purl.obolibrary.org/obo/GO_0046541saliva secretion
http://purl.obolibrary.org/obo/GO_0032941secretion by tissue
http://purl.obolibrary.org/obo/GO_0022600digestive system process
HP:0032806Focal impaired awareness sensory seizure with visual features
HP:0032801Focal impaired awareness cognitive seizure with memory impairment
HP:0032687Focal cognitive seizure with memory impairment
HP:0032800Focal aware sensory seizure with vestibular features
http://purl.obolibrary.org/obo/NBO_0000690status epilepticus
HP:0032805Focal impaired awareness sensory seizure with vestibular features
HP:0032759Focal sensory seizure with vestibular features
HP:0032804Focal impaired awareness sensory seizure with olfactory features
HP:0032803Focal impaired awareness cognitive seizure with dysgraphia/agraphia
HP:0032699Focal cognitive seizure with dysgraphia/agraphia
HP:0032802Focal impaired awareness cognitive seizure with dyscalculia/acalculia
HP:0032691Focal cognitive seizure with dyscalculia/acalculia
http://purl.obolibrary.org/obo/PR_Q63961endoglin (mouse)
http://purl.obolibrary.org/obo/PR_000001345endoglin
HP:0007809Punctate corneal dystrophy
HP:0007807Optic nerve compression
http://purl.obolibrary.org/obo/PR_P10966-1T-cell surface glycoprotein CD8 beta chain isoform 1 (human)
http://purl.obolibrary.org/obo/PR_P10966T-cell surface glycoprotein CD8 beta chain (human)
http://purl.obolibrary.org/obo/PR_000025405T-cell surface glycoprotein CD8 beta chain isoform 1
http://purl.obolibrary.org/obo/PR_000001085T-cell surface glycoprotein CD8 beta chain
HP:0007800Increased axial length of the globe
HP:0001090Abnormally large globe
HP:0100887Abnormality of globe size
HP:0007802Granular corneal dystrophy
HP:0007819Presenile cataracts
HP:0007818Central heterochromia
HP:0001100Heterochromia iridis
HP:0200064Asymmetry of iris pigmentation
HP:0008034Abnormal iris pigmentation
HP:0007817Horizontal supranuclear gaze palsy
HP:0000605Supranuclear gaze palsy
HP:0000549Abnormal conjugate eye movement
HP:0007812Herpetiform corneal ulceration
HP:0012804Corneal ulceration
HP:0011495Abnormal corneal epithelium morphology
HP:0007811Horizontal pendular nystagmus
HP:0006934Congenital nystagmus
HP:0012043Pendular nystagmus
HP:0007815Abnormal distribution of retinal arterioles and venules
HP:0007814Retinal pigment epithelial mottling
HP:0007813Nongranulomatous uveitis
HP:0000554Uveitis
HP:0032841Neonatal bilateral asymmetric epileptic spasm
HP:0032840Neonatal bilateral symmetric epileptic spasm
http://purl.obolibrary.org/obo/UBERON_0001388gastrocnemius
http://purl.obolibrary.org/obo/UBERON_0001389soleus muscle
HP:0005242Extrahepatic biliary duct atresia
http://purl.obolibrary.org/obo/UBERON_0001380vastus medialis
HP:0005243Partial abdominal muscle agenesis
HP:0005244Gastrointestinal infarctions
http://purl.obolibrary.org/obo/UBERON_0001384primary motor cortex
http://purl.obolibrary.org/obo/UBERON_0002616regional part of brain
HP:0005240Esophageal obstruction
HP:0005241Total intestinal aganglionosis
HP:0004362Abnormality of enteric ganglion morphology
http://purl.obolibrary.org/obo/UBERON_0001385tibialis anterior
http://purl.obolibrary.org/obo/UBERON_0008230tibialis
http://purl.obolibrary.org/obo/UBERON_0004256hindlimb zeugopod muscle
http://purl.obolibrary.org/obo/UBERON_0001383muscle of leg
http://purl.obolibrary.org/obo/UBERON_0000366flexor muscle
HP:0032845Focal aware epileptic spasm
HP:0032844Focal impaired awareness epileptic spasm
HP:0032843Focal-onset epileptic spasm
HP:0032842Generalized-onset epileptic spasm
HP:0011097Epileptic spasm
HP:0005246Giant hypertrophic gastritis
HP:0032849Aphasic status epilepticus
HP:0005247Hypoplasia of the abdominal wall musculature
HP:0032848Focal aware cognitive seizure with neglect
HP:0005248Intrahepatic biliary atresia
HP:0032847Focal impaired awareness hemifacial clonic seizure
HP:0005249Functional intestinal obstruction
http://purl.obolibrary.org/obo/GO_0010567regulation of ketone catabolic process
http://purl.obolibrary.org/obo/GO_0031329regulation of cellular catabolic process
HP:0032830Neonatal seizure with bilateral asymmetric automatism
HP:0005253Increased anterioposterior diameter of thorax
HP:0100625Enlarged thorax
HP:0005254Unilateral chest hypoplasia
HP:0005255Absence of pectoralis minor muscle
HP:0005256Unilateral absence of pectoralis major muscle
HP:0008998Pectoralis hypoplasia
HP:0008953Pectoralis major hypoplasia
HP:0011957Abnormal pectoral muscle morphology
HP:0032839Bilateral symmetric neonatal sequential seizure
HP:0005250High intestinal obstruction
http://purl.obolibrary.org/obo/UBERON_0001394axillary artery
HP:0032834Neonatal seizure with unilateral automatism
http://purl.obolibrary.org/obo/GO_0010572positive regulation of platelet activation
HP:0032832Neonatal bilateral asymmetric myoclonic seizure
HP:0032831Neonatal bilateral asymmetric tonic seizure
HP:0005257Thoracic hypoplasia
HP:0032838Neonatal unilateral epileptic spasm
HP:0032833Neonatal epileptic spasm
HP:0005258Pectoral muscle hypoplasia/aplasia
HP:0032837Bilateral asymmetric neonatal sequential seizure
HP:0005259Abnormal facility in opposing the shoulders
HP:0032836Neonatal bilateral symmetric myoclonic seizure
HP:0032835Neonatal seizure with bilateral symmetric automatism
HP:0032829Neonatal electro-clinical motor seizure with automatism
HP:0005267Premature delivery because of cervical insufficiency or membrane fragility
HP:0001622Premature birth
HP:0032828Neonatal bilateral symmetric tonic seizure
HP:0005261Joint hemorrhage
HP:0032823Neonatal electro-clinical seizure with behavior arrest
HP:0032822Neonatal electro-clinical autonomic seizure
HP:0032820Neonatal multifocal clonic seizure
HP:0005268Spontaneous abortion
HP:0032827Multifocal neonatal sequential seizure
HP:0032826Focal neonatal sequential seizure
HP:0032825Neonatal electro-clinical sequential motor seizure
HP:0032824Neonatal focal tonic seizure
HP:0032821Neonatal electro-clinical tonic seizure
HP:0005280Depressed nasal bridge
HP:0005281Hypoplastic nasal bridge
http://purl.obolibrary.org/obo/GO_2000727positive regulation of cardiac muscle cell differentiation
http://purl.obolibrary.org/obo/GO_0051155positive regulation of striated muscle cell differentiation
http://purl.obolibrary.org/obo/GO_0051149positive regulation of muscle cell differentiation
http://purl.obolibrary.org/obo/GO_0055025positive regulation of cardiac muscle tissue development
http://purl.obolibrary.org/obo/GO_0045844positive regulation of striated muscle tissue development
http://purl.obolibrary.org/obo/GO_1901863positive regulation of muscle tissue development
http://purl.obolibrary.org/obo/GO_0048636positive regulation of muscle organ development
http://purl.obolibrary.org/obo/GO_1905209positive regulation of cardiocyte differentiation
http://purl.obolibrary.org/obo/GO_2000726negative regulation of cardiac muscle cell differentiation
http://purl.obolibrary.org/obo/GO_0051154negative regulation of striated muscle cell differentiation
http://purl.obolibrary.org/obo/GO_0051148negative regulation of muscle cell differentiation
http://purl.obolibrary.org/obo/GO_0055026negative regulation of cardiac muscle tissue development
http://purl.obolibrary.org/obo/GO_0045843negative regulation of striated muscle tissue development
http://purl.obolibrary.org/obo/GO_1901862negative regulation of muscle tissue development
http://purl.obolibrary.org/obo/GO_0048635negative regulation of muscle organ development
http://purl.obolibrary.org/obo/GO_1905208negative regulation of cardiocyte differentiation
http://purl.obolibrary.org/obo/GO_2000725regulation of cardiac muscle cell differentiation
http://purl.obolibrary.org/obo/GO_0055024regulation of cardiac muscle tissue development
http://purl.obolibrary.org/obo/GO_0016202regulation of striated muscle tissue development
http://purl.obolibrary.org/obo/GO_1901861regulation of muscle tissue development
http://purl.obolibrary.org/obo/GO_0048634regulation of muscle organ development
http://purl.obolibrary.org/obo/GO_0051153regulation of striated muscle cell differentiation
http://purl.obolibrary.org/obo/GO_0051147regulation of muscle cell differentiation
http://purl.obolibrary.org/obo/GO_1905207regulation of cardiocyte differentiation
http://purl.obolibrary.org/obo/GO_2000026regulation of multicellular organismal development
HP:0005275Cartilaginous ossification of nose
HP:0032819Neonatal bilateral clonic seizure
HP:0032818Neonatal focal clonic seizure
HP:0005278Hypoplastic nasal tip
HP:0032817Neonatal focal myoclonic seizure
HP:0005272Prominent nasolabial fold
HP:0005273Absent nasal septal cartilage
HP:3000034Abnormality of cartilage of nasal septum
HP:0009935Aplasia/Hypoplasia of the nasal septum
HP:0005274Prominent nasal tip
HP:0000436Abnormality of the nasal tip
HP:0032812Neonatal electro-clinical non-motor seizure
HP:0032811Neonatal electrographic only seizure
HP:0032816Neonatal multifocal myoclonic seizure
HP:0032815Neonatal electro-clinical myoclonic seizure
HP:0032814Neonatal electro-clinical clonic seizure
HP:0032813Neonatal electro-clinical motor seizure
HP:0032809Neonatal electro-clinical seizure
HP:0032808Neonatal seizure with electrographic correlate
HP:0032807Neonatal seizure
HP:0030220Socially inappropriate behavior
HP:0030221Sweet craving
HP:0032880Focal impaired awareness sensory seizure with auditory features
HP:0030222Visual agnosia
HP:0010524Agnosia
HP:0030223Perseveration
HP:0032885Focal impaired awareness cognitive seizure with hallucination
HP:0032884Focal aware sensory seizure with somatosensory features
HP:0032883Focal aware cognitive seizure with deja vu/jamais vu
HP:0032882Focal impaired awareness cognitive seizure with deja vu/jamais vu
HP:0032697Focal cognitive seizure with deja vu/jamais vu
http://purl.obolibrary.org/obo/UBERON_0001344epithelium of vagina
http://purl.obolibrary.org/obo/UBERON_0000486multilaminar epithelium
http://purl.obolibrary.org/obo/UBERON_0004804oviduct epithelium
http://purl.obolibrary.org/obo/UBERON_0001343seminiferous tubule of testis
HP:0005200Retroperitoneal fibrosis
HP:0005201Anomalous splenoportal venous system
HP:0031941Abnormal portal venous system morphology
HP:0006707Abnormality of the hepatic vasculature
HP:0007862Retinal calcification
HP:0005206Pancreatic pseudocyst
HP:0007867Restrictive partial external ophthalmoplegia
HP:0032889Focal aware sensory seizure with gustatory features
HP:0030229Accumulation of muscle fiber valosin-containing protein
HP:0030228Abnormal muscle fiber valosin-containing protein
HP:0005207Gastric hypertrophy
HP:0007866Retinal infarction
HP:0032888Focal impaired awareness cognitive seizure with forced thinking
HP:0032692Focal cognitive seizure with forced thinking
HP:0005208Secretory diarrhea
HP:0002014Diarrhea
HP:0032887Generalized atonic seizure
HP:0010819Atonic seizure
HP:0005209Intrahepatic bile duct cysts
HP:0011040Abnormality of the intrahepatic bile duct
HP:0032886Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia
HP:0005202Helicobacter pylori infection
HP:0005203Spontaneous esophageal perforation
HP:0030225Accumulation of muscle fiber desmin
HP:0030224Abnormal muscle fiber desmin
HP:0030227Accumulation of muscle fiber myotilin
HP:0030226Abnormal muscle fiber myotilin
HP:0032870Focal impaired awareness cognitive seizure with dyslexia/alexia
HP:0032694Focal cognitive seizure with dyslexia/alexia
HP:0030210Muscle specific kinase antibody positivity
HP:0030211Slow pupillary light response
HP:0007695Abnormal pupillary light reflex
HP:0030212Collectionism
HP:0000722Obsessive-compulsive behavior
HP:0032874Focal impaired awareness cognitive seizure with auditory agnosia
HP:0032685Focal cognitive seizure with auditory agnosia
HP:0032873Focal aware sensory seizure with cephalic sensation
HP:0032872Focal impaired awareness cognitive seizure with illusion
HP:0032695Focal cognitive seizure with illusion
HP:0032871Focal aware cognitive seizure with hallucination
HP:0032703Focal cognitive seizure with hallucination
http://purl.obolibrary.org/obo/UBERON_0001355deep femoral artery
http://purl.obolibrary.org/obo/UBERON_0001356medial circumflex femoral artery
http://purl.obolibrary.org/obo/UBERON_0001359cerebrospinal fluid
HP:0005210Hypoplastic colon
HP:0004388Microcolon
HP:0100811Aplasia/Hypoplasia of the colon
HP:0005245Intestinal hypoplasia
HP:0005211Midgut malrotation
HP:0002566Intestinal malrotation
HP:0005212Anal mucosal leukoplakia
http://purl.obolibrary.org/obo/UBERON_0001351lacrimal sac
HP:0007874Almond-shaped palpebral fissure
HP:0200005Abnormal shape of the palpebral fissure
http://purl.obolibrary.org/obo/UBERON_0001350coccyx
http://purl.obolibrary.org/obo/UBERON_0006076caudal region of vertebral column
HP:0007873Abnormally prominent line of Schwalbe
HP:0008048Abnormality of the line of Schwalbe
http://purl.obolibrary.org/obo/UBERON_0001353anal region
HP:0007872Choroidal hemangioma
http://purl.obolibrary.org/obo/UBERON_0001352external acoustic meatus
HP:0030217Limb apraxia
HP:0002186Apraxia
HP:0005217Duplication of internal organs
HP:0032878Focal impaired awareness sensory seizure with cephalic sensation
HP:0032810Focal sensory seizure with cephalic sensation
HP:0005218Anoperineal fistula
HP:0010447Anal fistula
HP:0100819Intestinal fistula
HP:0004871Perineal fistula
HP:0100589Urogenital fistula
HP:0030218Punding
HP:0000733Stereotypy
HP:0032877Focal aware sensory seizure with hot-cold sensations
HP:0030219Semantic dementia
HP:0002145Frontotemporal dementia
HP:0000726Dementia
HP:0001268Mental deterioration
HP:0100543Cognitive impairment
HP:0005219Absence of intrinsic factor
HP:0032876Focal aware cognitive seizure with conduction dysphasia/aphasia
HP:0007875Congenital blindness
HP:0000618Blindness
HP:0005213Pancreatic calcification
HP:0030213Emotional blunting
HP:0030214Hypersexuality
HP:0008768Inappropriate sexual behavior
HP:0000735Impaired social interactions
HP:0012433Abnormal social behavior
HP:0000729Autistic behavior
HP:0005215Frequent Giardia lamblia infestation
HP:0004798Recurrent infection of the gastrointestinal tract
HP:0030215Inappropriate crying
HP:0000719Inappropriate behavior
HP:0031466Impairment in personality functioning
HP:0005216Impaired mastication
HP:0030216Inertia
HP:0000745Diminished motivation
HP:0007879Allergic conjunctivitis
HP:0000509Conjunctivitis
HP:0100533Inflammatory abnormality of the eye
HP:0032879Focal impaired awareness seizure with dissociation at onset
HP:0032689Focal cognitive seizure with dissociation
HP:0030200Fatiguable weakness of proximal limb muscles
http://purl.obolibrary.org/obo/PR_Q61391neprilysin (mouse)
http://purl.obolibrary.org/obo/PR_000001898neprilysin
HP:0032863Typical absence status epilepticus
HP:0032862Status epilepticus with ictal paresis
HP:0032861Focal non-convulsive status epilepticus with impairment of consciousness
http://purl.obolibrary.org/obo/UBERON_0001366parietal peritoneum
http://purl.obolibrary.org/obo/UBERON_0022351parietal serous membrane
http://purl.obolibrary.org/obo/UBERON_0001365sacro-iliac joint
http://purl.obolibrary.org/obo/UBERON_0011107synovial joint of pelvic girdle
HP:0005220Multiple intestinal neurofibromatosis
HP:0001067Neurofibromas
HP:0007880Marginal corneal dystrophy
http://purl.obolibrary.org/obo/CHEBI_132362citrate(4-)
http://purl.obolibrary.org/obo/CHEBI_133748citrate anion
HP:0005222Bowel diverticulosis
HP:0005223Duplicated colon
HP:0100668Intestinal duplication
HP:0011140Gastrointestinal duplication
HP:0007885Slowed horizontal saccades
HP:0000514Slow saccadic eye movements
http://purl.obolibrary.org/obo/UBERON_0001361femoral vein
HP:0030206EMG: incremental response of compound muscle action potential to repetitive nerve stimulation
HP:0007889Iridescent posterior subcapsular cataract
HP:0005229Jejunoileal ulceration
HP:0001549Abnormal ileum morphology
HP:0004398Peptic ulcer
HP:0030207Paradoxical respiration
HP:0032866Oculoclonic status epilepticus
HP:0032663Focal motor status epilepticus
HP:0032658Status epilepticus with prominent motor symptoms
HP:0030208Acetylcholine receptor antibody positivity
HP:0032865Myoclonic absence status epilepticus
HP:0032860Generalized non-convulsive status epilepticus without coma
HP:0030209Calcium channel antibody positivity
HP:0007886Absent extraocular muscles
HP:0032864Focal aware sensory seizure with auditory features
HP:0011158Focal sensory seizure with auditory features
HP:0005224Rectal abscess
HP:0002034Abnormality of the rectum
HP:0030202Favorable response of weakness to acetylcholine esterase inhibitors
HP:0005225Intestinal edema
HP:0030203Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
HP:0030201Response to drugs acting on neuromuscular transmission
HP:0032869Focal non-convulsive status epilepticus without impairment of consciousness
HP:0032673Focal non-convulsive status epilepticus without coma
HP:0032671Non-convulsive status epilepticus without coma
HP:0031475Status epilepticus without prominent motor symptoms
HP:0005227Adenomatous colonic polyposis
HP:0030205Increased jitter at single fiber EMG
HP:0030006Single fiber EMG abnormality
HP:0032868Super-refractory status epilepticus
HP:0032867Refractory status epilepticus
HP:0002133Status epilepticus
HP:0032852Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia
HP:0032698Focal cognitive seizure with conduction dysphasia/aphasia
HP:0032851Focal aware sensory seizure with visual features
HP:0011165Focal sensory seizure with visual features
HP:0032850Focal aware cognitive seizure with expressive dysphasia/aphasia
HP:0032681Focal aware cognitive seizure
HP:0032702Focal cognitive seizure with expressive dysphasia/aphasia
http://purl.obolibrary.org/obo/UBERON_0001379vastus lateralis
http://purl.obolibrary.org/obo/UBERON_0001378rectus femoris
http://purl.obolibrary.org/obo/UBERON_0001377quadriceps femoris
HP:0005231Chronic gastritis
HP:0007892Hypoplasia of the lacrimal punctum
HP:0011479Abnormal lacrimal punctum morphology
HP:0005232Pancreatic dysplasia
HP:0005233Hypoplasia of the gallbladder
HP:0011466Aplasia/Hypoplasia of the gallbladder
HP:0005234Neonatal intestinal obstruction
HP:0005214Intestinal obstruction
HP:0004796Gastrointestinal obstruction
HP:0005230Biliary tract obstruction
HP:0032856Focal aware bilateral motor seizure
HP:0032715Focal bilateral motor seizure
HP:0007899Retinal nonattachment
HP:0032855Photosensitive myoclonic-tonic-clonic seizure
HP:0020216Visually-induced seizure
HP:0007898Exudative retinopathy
HP:0032854Focal aware hemifacial clonic seizure
HP:0032711Focal aware clonic seizure
HP:0007332Focal hemifacial clonic seizure
HP:0032853Focal impaired awareness sensory seizure with hot-cold sensations
HP:0032760Focal sensory seizure with hot-cold sensations
HP:0005235Jejunal atresia
HP:0005265Abnormality of the jejunum
HP:0011100Intestinal atresia
HP:0002589Gastrointestinal atresia
HP:0005236Chronic calcifying pancreatitis
HP:0001733Pancreatitis
HP:0012091Abnormality of pancreas physiology
HP:0032859Focal motor impaired awareness seizure with paresis/paralysis
HP:0032721Focal motor seizure with paresis/paralysis
HP:0005237Degenerative liver disease
HP:0032858Focal motor impaired awareness seizure with negative myoclonus
HP:0005238Discrete intestinal polyps
HP:0032857Focal motor aware seizure with negative myoclonus
HP:0032846Focal motor seizure with negative myoclonus
HP:0030143Hyperactive bowel sounds
http://purl.obolibrary.org/obo/UBERON_0001308external iliac artery
HP:0030144Hypoactive bowel sounds
http://purl.obolibrary.org/obo/UBERON_0001307capsule of ovary
HP:0030145Lack of bowel sounds
http://purl.obolibrary.org/obo/UBERON_0001309internal iliac artery
HP:0030146Abnormal liver parenchyma morphology
http://purl.obolibrary.org/obo/PATO_0002317parallelogram
http://purl.obolibrary.org/obo/PATO_0001988quadrangular
HP:0030140Oral cavity bleeding
HP:0030141Abnormality of the posterior hairline
HP:0030142Abnormal bowel sounds
http://purl.obolibrary.org/obo/PATO_0002318superelliptic
http://purl.obolibrary.org/obo/PATO_00020062-D shape
http://purl.obolibrary.org/obo/UBERON_0001300scrotum
http://purl.obolibrary.org/obo/UBERON_0003963otic ganglion
http://purl.obolibrary.org/obo/UBERON_0001808parasympathetic ganglion
http://purl.obolibrary.org/obo/UBERON_0001805autonomic ganglion
http://purl.obolibrary.org/obo/UBERON_0001701glossopharyngeal ganglion
http://purl.obolibrary.org/obo/UBERON_0009127epibranchial ganglion
http://purl.obolibrary.org/obo/UBERON_0001714cranial ganglion
http://purl.obolibrary.org/obo/UBERON_0001302right uterine tube
http://purl.obolibrary.org/obo/UBERON_0001301epididymis
http://purl.obolibrary.org/obo/UBERON_0001304germinal epithelium of ovary
http://purl.obolibrary.org/obo/UBERON_0000484simple cuboidal epithelium
http://purl.obolibrary.org/obo/UBERON_0010077cuboidal epithelium
http://purl.obolibrary.org/obo/UBERON_0004911epithelium of female gonad
http://purl.obolibrary.org/obo/UBERON_0004909epithelium of gonad
http://purl.obolibrary.org/obo/UBERON_0001303left uterine tube
http://purl.obolibrary.org/obo/UBERON_0003967cutaneous elastic tissue
http://purl.obolibrary.org/obo/UBERON_0003968peripheral lymph node
http://purl.obolibrary.org/obo/CHEBI_58958organosulfate oxoanion
http://purl.obolibrary.org/obo/CHEBI_33482sulfur oxoanion
http://purl.obolibrary.org/obo/CHEBI_33485chalcogen oxoanion
http://purl.obolibrary.org/obo/CHEBI_58956branched-chain saturated fatty acid anion
http://purl.obolibrary.org/obo/UBERON_0003960styloid process of temporal bone
http://purl.obolibrary.org/obo/UBERON_0004530bony projection
http://purl.obolibrary.org/obo/CHEBI_58954straight-chain saturated fatty acid anion
http://purl.obolibrary.org/obo/CHEBI_58953saturated fatty acid anion
http://purl.obolibrary.org/obo/CHEBI_58951short-chain fatty acid anion
HP:0030147Truncal titubation
HP:0030148Heart murmur
HP:0031657Abnormal heart sound
HP:0030149Cardiogenic shock
HP:0031273Shock
HP:0030132Absence of large von Willibrand factor multimers
http://purl.obolibrary.org/obo/UBERON_0001319vaginal vein
HP:0032793Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia
HP:0032696Focal cognitive seizure with receptive dysphasia/aphasia
HP:0032792Tonic seizure
HP:0030133Abnormal presence of ultra-large von Willebrand factor multimers
HP:0030134Total absence von Willebrand factor multimers
HP:0032791Focal impaired awareness cognitive seizure with anomia
HP:0032701Focal cognitive seizure with anomia
HP:0032790Focal impaired awareness behavior arrest seizure
HP:0030135Absence of intermediate von Willibrand factor multimers
HP:0032797Focal aware sensory seizure with olfactory features
HP:0032754Focal aware sensory seizure
HP:0011161Focal sensory seizure with olfactory features
HP:0032796Focal impaired awareness cognitive seizure with left-right confusion
HP:0032700Focal cognitive seizure with left-right confusion
HP:0030130Impaired von Willibrand factor collagen binding activity
HP:0032795Generalized myoclonic-tonic-clonic seizure
HP:0032677Generalized-onset motor seizure
HP:0002197Generalized-onset seizure
HP:0032794Myoclonic seizure
http://purl.obolibrary.org/obo/PATO_0002302decreased process quality
http://purl.obolibrary.org/obo/UBERON_0001310umbilical artery
http://purl.obolibrary.org/obo/UBERON_0010260umbilical blood vessel
http://purl.obolibrary.org/obo/PATO_0002304increased process quality
http://purl.obolibrary.org/obo/UBERON_0003975internal female genitalia
http://purl.obolibrary.org/obo/UBERON_0004175internal genitalia
http://purl.obolibrary.org/obo/UBERON_0001312superior vesical artery
http://purl.obolibrary.org/obo/UBERON_0009027vesical artery
http://purl.obolibrary.org/obo/UBERON_0001317internal iliac vein
http://purl.obolibrary.org/obo/UBERON_0005610iliac vein
http://purl.obolibrary.org/obo/UBERON_0003970placental labyrinth vasculature
http://purl.obolibrary.org/obo/UBERON_0006876vasculature of organ
HP:0032799Focal impaired awareness hemiclonic seizure
HP:0006813Focal hemiclonic seizure
HP:0032725Focal impaired awareness clonic seizure
HP:0002266Focal clonic seizure
HP:0020221Clonic seizure
HP:0032798Focal impaired awareness cognitive seizure with neglect
HP:0032756Focal impaired awareness cognitive seizure
HP:0032693Focal cognitive seizure with neglect
HP:0032680Focal cognitive seizure
HP:0030136Enhanced ristocetin cofactor assay activity
HP:0030137Prolonged bleeding following circumcision
HP:0011890Prolonged bleeding following procedure
HP:0030138Excessive bleeding from superficial cuts
HP:0030139Excessive bleeding after a venipuncture
HP:0030121Reduced muscle fiber calpain-3
HP:0032782Focal impaired awareness autonomic seizure with lacrimation
HP:0030122Reduced muscle fiber perlecan
HP:0032781Focal aware autonomic seizure with urge to urinate/defecate
HP:0032780Focal impaired awareness autonomic seizure with erection
HP:0030124Reduced muscle fiber lamin A/C
HP:0030123Abnormal muscle fiber lamin A/C
HP:0032786Migrating focal seizure
HP:0032785Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena
HP:0032784Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole
HP:0030120Absent muscle fiber calpain-3
HP:0032783Focal aware autonomic seizure with piloerection
http://purl.obolibrary.org/obo/UBERON_0003983conus arteriosus
http://purl.obolibrary.org/obo/UBERON_0004151cardiac chamber
http://purl.obolibrary.org/obo/UBERON_0001322sciatic nerve
http://purl.obolibrary.org/obo/UBERON_0003984uterine tube infundibulum
http://purl.obolibrary.org/obo/UBERON_0001323tibial nerve
http://purl.obolibrary.org/obo/UBERON_0003988thymus corticomedullary boundary
http://purl.obolibrary.org/obo/UBERON_0001325muscle of pelvis
http://purl.obolibrary.org/obo/UBERON_0001328lobe of prostate
http://purl.obolibrary.org/obo/UBERON_0003980cerebellum fissure
http://purl.obolibrary.org/obo/UBERON_0014466subarachnoid fissure
HP:0030129Impaired ristocetin cofactor assay activity
HP:0032789Focal aware behavior arrest seizure
HP:0011173Focal behavior arrest seizure
HP:0032788Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole
HP:0030125Sacralization of the fifth lumbar vertebra
HP:0030127Endometriosis
HP:0030012Abnormal female reproductive system physiology
HP:0030110Absent muscle fiber delta sarcoglycan
HP:0030111Reduced muscle fiber delta sarcoglycan
HP:0030105Abnormal muscle fiber delta sarcoglycan
HP:0032770Focal aware autonomic seizure with erection
HP:0032764Focal autonomic seizure with erection
HP:0030112Abnormal muscle fiber alpha dystroglycan
http://purl.obolibrary.org/obo/PATO_0002328decreased angle to
http://purl.obolibrary.org/obo/PATO_0001476decreased position
HP:0032775Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration
HP:0032766Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration
http://purl.obolibrary.org/obo/PATO_0002327increased angle to
http://purl.obolibrary.org/obo/PATO_0001475increased position
HP:0032774Focal impaired awareness autonomic seizure with urge to urinate/defecate
HP:0032765Focal autonomic seizure with urge to urinate/defecate
HP:0032773Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole
HP:0032772Focal impaired awareness autonomic seizure with piloerection
HP:0032767Focal autonomic seizure with piloerection
http://purl.obolibrary.org/obo/PATO_0002324offset quality
http://purl.obolibrary.org/obo/UBERON_0001333male urethra
http://purl.obolibrary.org/obo/UBERON_0001332prepuce of penis
http://purl.obolibrary.org/obo/UBERON_0011374prepuce
http://purl.obolibrary.org/obo/PATO_0002326angle
http://purl.obolibrary.org/obo/PATO_0000133orientation
http://purl.obolibrary.org/obo/PATO_0000140position
http://purl.obolibrary.org/obo/PATO_0001018physical quality
http://purl.obolibrary.org/obo/PATO_0002325onset quality
http://purl.obolibrary.org/obo/PATO_0002323temporal distribution quality
http://purl.obolibrary.org/obo/PATO_0002062physical quality of a process
http://purl.obolibrary.org/obo/PATO_0001236process quality
http://purl.obolibrary.org/obo/UBERON_0001334female urethra
http://purl.obolibrary.org/obo/UBERON_0000057urethra
http://purl.obolibrary.org/obo/UBERON_0003999hyoid bone body
http://purl.obolibrary.org/obo/UBERON_0010273zone of hyoid bone
http://purl.obolibrary.org/obo/UBERON_0001338urethral gland
http://purl.obolibrary.org/obo/UBERON_0001331skin of penis
http://purl.obolibrary.org/obo/UBERON_0001330pampiniform plexus
http://purl.obolibrary.org/obo/UBERON_0001593venous plexus
http://purl.obolibrary.org/obo/UBERON_0004537blood vasculature
http://purl.obolibrary.org/obo/UBERON_0005629vascular plexus
HP:0030118Reduced muscle fiber emerin
HP:0032779Focal impaired awareness autonomic seizure with pupillary dilation/constriction
HP:0032763Focal autonomic seizure with pupillary dilation/constriction
HP:0030119Abnormal muscle fiber calpain-3
HP:0032778Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena
HP:0011159Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena
HP:0032777Focal impaired awareness autonomic seizure with pallor/flushing
HP:0032755Focal impaired awareness autonomic seizure
HP:0032762Focal autonomic seizure with pallor/flushing
HP:0032776Focal aware autonomic seizure with lacrimation
HP:0032740Focal aware autonomic seizure
HP:0032682Focal non-motor aware seizure
HP:0032771Focal autonomic seizure with lacrimation
HP:0011154Focal autonomic seizure
HP:0030114Absent muscle fiber dysferlin
HP:0030115Reduced muscle fiber dysferlin
HP:0030113Abnormal muscle fiber dysferlin
HP:0030117Absent muscle fiber emerin
HP:0030116Abnormal muscle fiber emerin
HP:0030089Abnormal muscle fiber protein expression
http://purl.obolibrary.org/obo/CHEBI_3098bile acid
http://purl.obolibrary.org/obo/CHEBI_138366bile acids
HP:0030187Titubation
http://purl.obolibrary.org/obo/GO_2000832negative regulation of steroid hormone secretion
HP:0030188Tremor by anatomical site
HP:0030183Impaired visually enhanced vestibulo-ocular reflex
HP:0030185Isometric tremor
HP:0030186Kinetic tremor
HP:0002345Action tremor
HP:0030180Oppenheim reflex
HP:0005170Complete heart block with broad QRS complexes
HP:0030181Gordon reflex
http://purl.obolibrary.org/obo/PATO_0002359broad
HP:0030182Tetraplegia/tetraparesis
http://purl.obolibrary.org/obo/UBERON_0003921pancreas primordium
http://purl.obolibrary.org/obo/UBERON_0003923dorsal pancreatic bud
http://purl.obolibrary.org/obo/GO_2000833positive regulation of steroid hormone secretion
http://purl.obolibrary.org/obo/GO_2000831regulation of steroid hormone secretion
http://purl.obolibrary.org/obo/GO_0044060regulation of endocrine process
http://purl.obolibrary.org/obo/UBERON_0003924ventral pancreatic bud
http://purl.obolibrary.org/obo/UBERON_0003922pancreatic epithelial bud
HP:0005165Shortened PR interval
HP:0031593Abnormal PR interval
http://purl.obolibrary.org/obo/PATO_0002362decreased tendency
http://purl.obolibrary.org/obo/PATO_0002303decreased object quality
http://purl.obolibrary.org/obo/PATO_0002301decreased quality
http://purl.obolibrary.org/obo/PATO_0002361increased tendency
http://purl.obolibrary.org/obo/PATO_0002305increased object quality
http://purl.obolibrary.org/obo/PATO_0002300increased quality
http://purl.obolibrary.org/obo/PATO_0000069deviation (from_normal)
http://purl.obolibrary.org/obo/PATO_0000068qualitative
http://purl.obolibrary.org/obo/PATO_0002360tendency
http://purl.obolibrary.org/obo/PATO_0001727disposition
HP:0005168Elevated right atrial pressure
HP:0025443Abnormal cardiac atrial physiology
HP:0005162Left ventricular dysfunction
HP:0005164Dysplastic pulmonary valve
HP:0030176Asymmetric peripheral demyelination
HP:0030178Abnormality of central nervous system electrophysiology
HP:0030179Abnormal peripheral action potential amplitude
HP:0030172Peripheral amyelination
HP:0030174Increased peripheral myelin thickness
HP:0030175Myelin tomacula
HP:0030173Peripheral hypermyelination
HP:0005180Tricuspid regurgitation
HP:0031651Abnormal tricuspid valve physiology
HP:0031650Abnormal atrioventricular valve physiology
HP:0031653Abnormal heart valve physiology
HP:0005181Premature coronary artery atherosclerosis
HP:0001677Coronary artery atherosclerosis
HP:0002621Atherosclerosis
http://purl.obolibrary.org/obo/UBERON_0003930atrioventricular canal endocardium
HP:0030170Cystic artery pseudoaneurysm
HP:0005182Bicuspid pulmonary valve
HP:0031566Abnormal pulmonary valve cusp morphology
HP:0001641Abnormal pulmonary valve morphology
HP:0030171Perirenal hematoma
http://purl.obolibrary.org/obo/UBERON_0003931diencephalic white matter
http://purl.obolibrary.org/obo/UBERON_0019261white matter of forebrain
HP:0005176Dysplastic aortic valve
HP:0001646Abnormal aortic valve morphology
HP:0005177Premature arteriosclerosis
HP:0002634Arteriosclerosis
http://purl.obolibrary.org/obo/UBERON_0015918deep lymph node
HP:0005178Complete heart block with narrow QRS complexes
HP:0001709Third degree atrioventricular block
HP:0001678Atrioventricular block
HP:0005150Abnormal atrioventricular conduction
http://purl.obolibrary.org/obo/UBERON_0015917superficial lymph node
HP:0005172Left posterior fascicular block
HP:0011713Left bundle branch block
HP:0011710Bundle branch block
HP:0012722Heart block
HP:0031546Cardiac conduction abnormality
HP:0005174Membranous subvalvular aortic stenosis
HP:0001682Subvalvular aortic stenosis
HP:0011103Abnormal left ventricular outflow tract morphology
HP:0001711Abnormal left ventricle morphology
HP:0030165Temporal artery tortuosity
HP:0030166Night sweats
HP:0030167Antimitochondrial antibody positivity
HP:0030168Dilated superficial abdominal veins
HP:0001015Prominent superficial veins
HP:0007394Prominent superficial blood vessels
HP:0030161Vaginal pruritus
HP:0030162Glomerulomegaly
HP:0030164Jaw claudication
HP:0005190Proximal finger joint hyperextensibility
HP:0001187Hyperextensibility of the finger joints
HP:0006094Finger joint hypermobility
HP:0006256Abnormality of hand joint mobility
HP:0005191Congenital knee dislocation
HP:0004976Knee dislocation
HP:0005193Restricted large joint movement
http://purl.obolibrary.org/obo/UBERON_0003942somatic sensory system
HP:0030160Cervicitis
http://purl.obolibrary.org/obo/UBERON_0003946placenta labyrinth
http://purl.obolibrary.org/obo/GO_0034505tooth mineralization
HP:0005187Progressive joint destruction
HP:0005183Pericardial lymphangiectasia
HP:0031842Lymphangiectasis
HP:0100766Abnormal lymphatic vessel morphology
HP:0001697Abnormal pericardium morphology
HP:0005184Prolonged QTc interval
HP:0001657Prolonged QT interval
HP:0031547Abnormal QT interval
HP:0005185Global systolic dysfunction
HP:0006673Reduced systolic function
HP:0005186Synovial hypertrophy
http://purl.obolibrary.org/obo/GO_0010560positive regulation of glycoprotein biosynthetic process
http://purl.obolibrary.org/obo/GO_0010557positive regulation of macromolecule biosynthetic process
http://purl.obolibrary.org/obo/GO_1903020positive regulation of glycoprotein metabolic process
http://purl.obolibrary.org/obo/GO_0031328positive regulation of cellular biosynthetic process
http://purl.obolibrary.org/obo/GO_0010561negative regulation of glycoprotein biosynthetic process
http://purl.obolibrary.org/obo/GO_0010559regulation of glycoprotein biosynthetic process
http://purl.obolibrary.org/obo/GO_1903019negative regulation of glycoprotein metabolic process
http://purl.obolibrary.org/obo/GO_1903018regulation of glycoprotein metabolic process
HP:0030169Gastric varix
HP:0030154Gallbladder perforation
http://purl.obolibrary.org/obo/UBERON_0003959rete testis
HP:0030155Scrotal pain
HP:0030156Bence Jones Proteinuria
http://purl.obolibrary.org/obo/GO_0010544negative regulation of platelet activation
HP:0030157Flank pain
HP:0030150Plasmacytosis
http://purl.obolibrary.org/obo/GO_0010543regulation of platelet activation
HP:0030153Cholangiocarcinoma
HP:0100574Biliary tract neoplasm
http://purl.obolibrary.org/obo/UBERON_0003951ocular fundus
http://purl.obolibrary.org/obo/UBERON_0003952anterior stroma of cornea
http://purl.obolibrary.org/obo/UBERON_0003953posterior stroma of cornea
http://purl.obolibrary.org/obo/PATO_0002364shortened
http://purl.obolibrary.org/obo/PATO_0000052shape
http://purl.obolibrary.org/obo/PATO_0000051morphology
http://purl.obolibrary.org/obo/PATO_0001241physical object quality
http://purl.obolibrary.org/obo/BFO_0000019quality
http://purl.obolibrary.org/obo/UBERON_0003954squamoparietal suture
http://purl.obolibrary.org/obo/UBERON_0003955molar crown
http://purl.obolibrary.org/obo/UBERON_0003956aqueous drainage system
HP:0005198Stiff interphalangeal joints
HP:0005199Aplasia of the abdominal wall musculature
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0005194Flattened metatarsal heads
HP:0005197Generalized morning stiffness
HP:0001387Joint stiffness
HP:0030158Cervical ectropion
HP:0030159Cervical polyp
HP:0012888Abnormality of the uterine cervix
http://purl.obolibrary.org/obo/PR_000048096PR:000048096 located_in GO:0005886
http://purl.obolibrary.org/obo/PR_P35968vascular endothelial growth factor receptor 2 (human)
http://purl.obolibrary.org/obo/PR_000002112vascular endothelial growth factor receptor 2
http://purl.obolibrary.org/obo/PR_000001971vascular endothelial growth factor receptor
http://purl.obolibrary.org/obo/NBO_0000656somatic sensation related behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000655sensation behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000651simple partial seizure with motor signs
http://purl.obolibrary.org/obo/CHEBI_839723-methyl fatty acid anion
http://purl.obolibrary.org/obo/CHEBI_67013methyl-branched fatty acid anion
http://purl.obolibrary.org/obo/CHEBI_58955branched-chain fatty acid anion
http://purl.obolibrary.org/obo/CHEBI_46904oxalate(1-)
http://purl.obolibrary.org/obo/CHEBI_839552-saturated fatty acid anion
http://purl.obolibrary.org/obo/CHEBI_28868fatty acid anion
http://purl.obolibrary.org/obo/NBO_0000648complex partial seizure
http://purl.obolibrary.org/obo/NBO_0000647simple partial seizure
http://purl.obolibrary.org/obo/NBO_0000643involuntary movement behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000642epilepsy
http://purl.obolibrary.org/obo/CHEBI_46915sarcosinate
http://purl.obolibrary.org/obo/CHEBI_46913ornithinium(2+)
http://purl.obolibrary.org/obo/UBERON_0003907left atrioventricular canal
http://purl.obolibrary.org/obo/CHEBI_46912ornithinium(1+)
http://purl.obolibrary.org/obo/CHEBI_33719alpha-amino-acid cation
http://purl.obolibrary.org/obo/CHEBI_33703amino-acid cation
http://purl.obolibrary.org/obo/UBERON_0003908right atrioventricular canal
http://purl.obolibrary.org/obo/UBERON_0002087atrioventricular canal
http://purl.obolibrary.org/obo/UBERON_0003900epaxial myotome region
http://purl.obolibrary.org/obo/UBERON_0003901horizontal septum
http://purl.obolibrary.org/obo/UBERON_0003902retinal neural layer
http://purl.obolibrary.org/obo/UBERON_0001781layer of retina
http://purl.obolibrary.org/obo/UBERON_0022303nervous system cell part layer
http://purl.obolibrary.org/obo/NBO_0000678febrile seizure
http://purl.obolibrary.org/obo/NBO_0000686provoked seizure
http://purl.obolibrary.org/obo/NBO_0000677tonic seizure
http://purl.obolibrary.org/obo/NBO_0000676tonic clonic seizure
http://purl.obolibrary.org/obo/NBO_0000670atonic seizure
HP:0030198Fatigable weakness of distal limb muscles
HP:0030199Fatigable weakness of neck muscles
http://purl.obolibrary.org/obo/UBERON_0003915endothelial tube
HP:0030194Fatigable weakness of speech muscles
HP:0030195Fatigable weakness of swallowing muscles
HP:0030196Fatigable weakness of respiratory muscles
HP:0030197Fatigable weakness of skeletal muscles
HP:0030190Oral motor hypotonia
HP:0030193Fatigable weakness of chewing muscles
HP:0030192Fatigable weakness of bulbar muscles
http://purl.obolibrary.org/obo/UBERON_0003911choroid plexus epithelium
http://purl.obolibrary.org/obo/NBO_0000669absence seizures
http://purl.obolibrary.org/obo/NBO_0000663partial seizure evolving to secondarily generalized seizure
http://purl.obolibrary.org/obo/NBO_0000646partial seizure
http://purl.obolibrary.org/obo/NBO_0000662generalized seizure
http://purl.obolibrary.org/obo/NBO_0000025seizures
http://purl.obolibrary.org/obo/NBO_0000012seizures/epilepsy
http://purl.obolibrary.org/obo/CHEBI_22984calcium atom
http://purl.obolibrary.org/obo/CHEBI_22313alkaline earth metal atom
http://purl.obolibrary.org/obo/NBO_0000617laughing behavior
http://purl.obolibrary.org/obo/NBO_0000616eye contact
http://purl.obolibrary.org/obo/NBO_0000613nonverbal communication behavior
http://purl.obolibrary.org/obo/NBO_0000612communication behavior
http://purl.obolibrary.org/obo/NBO_0000611olfactory hallucination
http://purl.obolibrary.org/obo/NBO_0000610auditory hallucination
http://purl.obolibrary.org/obo/NBO_0000609visual hallucination
http://purl.obolibrary.org/obo/NBO_0000608hallucination
http://purl.obolibrary.org/obo/NBO_0000308sensation behavior
http://purl.obolibrary.org/obo/NBO_0000607cognitive behavior
http://purl.obolibrary.org/obo/NBO_0000606forgetfulness
http://purl.obolibrary.org/obo/NBO_0000605sexual inhibition
http://purl.obolibrary.org/obo/NBO_0000604social inhibition
http://purl.obolibrary.org/obo/NBO_0000011social behavior
http://purl.obolibrary.org/obo/NBO_0000603delusion
http://purl.obolibrary.org/obo/NBO_0000266cognitive behavior phenotype
http://purl.obolibrary.org/obo/PATO_0000001quality
http://purl.obolibrary.org/obo/BFO_0000020specifically dependent continuant
http://purl.obolibrary.org/obo/PR_Q00342receptor-type tyrosine-protein kinase FLT3 (mouse)
http://purl.obolibrary.org/obo/PR_000002001receptor-type tyrosine-protein kinase FLT3
http://purl.obolibrary.org/obo/PR_000001810CSF-1/PDGF receptor-type tyrosine-protein kinase
http://purl.obolibrary.org/obo/NBO_0000602apathy
http://purl.obolibrary.org/obo/NBO_0000601emotional behavior phenotype
http://www.informatics.jax.org/marker/MGI:97612Plaur (mouse)
http://purl.obolibrary.org/obo/NBO_0000623echolalia
http://purl.obolibrary.org/obo/NBO_0000567stereotypic behavior
http://purl.obolibrary.org/obo/NBO_0000644voluntary movement behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000568kinesthetic behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000621selective mutism
http://purl.obolibrary.org/obo/NBO_0000564social behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000620frustration behavior
http://purl.obolibrary.org/obo/NBO_0000003emotional behavior
HP:0007944Intermittent microsaccadic pursuits
HP:0001152Saccadic smooth pursuit
HP:0000617Abnormality of ocular smooth pursuit
HP:0007943Congenital stapes ankylosis
HP:0000381Stapes ankylosis
HP:0008628Abnormality of the stapes
HP:0007942Internal ophthalmoplegia
HP:0007941Limited extraocular movements
HP:0007948Dense posterior cortical cataract
HP:0010924Posterior cortical cataract
HP:0100019Cortical cataract
HP:0007947Pericentral retinitis pigmentosa
HP:0000510Rod-cone dystrophy
HP:0007946Unilateral narrow palpebral fissure
HP:0000581Blepharophimosis
HP:0012745Short palpebral fissure
HP:0045025Narrow palpebral fissure
HP:0200007Abnormal size of the palpebral fissures
HP:0008050Abnormality of the palpebral fissures
HP:0007950Peripapillary chorioretinal atrophy
http://purl.obolibrary.org/obo/GO_0071887leukocyte apoptotic process
http://purl.obolibrary.org/obo/GO_0006915apoptotic process
http://purl.obolibrary.org/obo/GO_0012501programmed cell death
http://purl.obolibrary.org/obo/GO_0008219cell death
HP:0007958Optic atrophy from cranial nerve compression
HP:0000648Optic atrophy
HP:0012795Abnormality of the optic disc
HP:0000587Abnormality of the optic nerve
HP:0001293Cranial nerve compression
HP:0001291Abnormal cranial nerve morphology
http://purl.obolibrary.org/obo/GO_0044262cellular carbohydrate metabolic process
HP:0005300Nodular inflammatory vasculitis
HP:0007962Speckled corneal dystrophy
HP:0001131Corneal dystrophy
HP:0000482Microcornea
HP:0001120Abnormality of corneal size
HP:0005305Cerebral venous thrombosis
HP:0007965Undetectable visual evoked potentials
HP:0005307Postural hypotension with compensatory tachycardia
HP:0001278Orthostatic hypotension
HP:0002615Hypotension
HP:0007964Degenerative vitreoretinopathy
HP:0005308Pulmonary artery vasoconstriction
HP:0005301Persistent left superior vena cava
HP:0025575Abnormal superior vena cava morphology
HP:0005302Carotid artery tortuosity
HP:0005116Arterial tortuosity
HP:0004948Vascular tortuosity
HP:0005303Aortic arch calcification
HP:0004962Thoracic aorta calcification
HP:0004963Calcification of the aorta
HP:0005304Hypoplastic pulmonary veins
HP:0005310Large vessel vasculitis
http://purl.obolibrary.org/obo/UBERON_0025261thalamic fiber tract
http://purl.obolibrary.org/obo/UBERON_0011591tract of diencephalon
HP:0005311Agenesis of pulmonary vessels
HP:0007973Retinal dysplasia
HP:0007971Lamellar cataract
HP:0005316Peripheral pulmonary vessel aplasia
HP:0005317Increased pulmonary vascular resistance
HP:0007976Cerulean cataract
HP:0007648Punctate cataract
HP:0010920Zonular cataract
HP:0005318Cerebral vasculitis
HP:0007975Hypometric horizontal saccades
HP:0000571Hypometric saccades
HP:0000570Abnormal saccadic eye movements
HP:0005312Pulmonary aterial intimal fibrosis
HP:0005313Arterial fibromuscular dysplasia
HP:0005314Anomalous branches of internal carotid artery
HP:0007979Gaze-evoked horizontal nystagmus
HP:0000640Gaze-evoked nystagmus
HP:0000666Horizontal nystagmus
HP:0007906Ocular hypertension
HP:0012633Asymmetry of intraocular pressure
HP:0012632Abnormal intraocular pressure
http://purl.obolibrary.org/obo/GO_0140014mitotic nuclear division
http://purl.obolibrary.org/obo/GO_1903047mitotic cell cycle process
HP:0007905Abnormal iris vasculature
http://purl.obolibrary.org/obo/UBERON_0013280diaphysis of tibia
HP:0032928Elevated CSF neurofilamant light chain
HP:0032927Focal impaired awareness undressing automatism seizure
HP:0007900Hypoplastic lacrimal duct
HP:0032922Focal impaired awareness perseverative automatism seizure
HP:0032921Focal impaired awareness pedal automatism seizure
HP:0032920Focal impaired awareness manual automatism seizure
HP:0032926Focal impaired awareness head nodding automatism seizure
HP:0007903Paravenous chorioretinal atrophy
HP:0032925Focal impaired awareness sexual automatism seizure
HP:0007902Vitreous hemorrhage
HP:0011885Hemorrhage of the eye
HP:0032924Focal impaired awareness verbal automatism seizure
HP:0032923Focal impaired awareness vocal automatism seizure
HP:0007917Tractional retinal detachment
HP:0032919Focal aware head nodding automatism seizure
HP:0032918Focal impaired awareness orofacial automatism seizure
HP:0032917Focal aware sexual automatism seizure
HP:0032916Focal aware verbal automatism seizure
HP:0032911Focal aware orofacial automatism seizure
HP:0007911Congenital bilateral ptosis
HP:0001488Bilateral ptosis
HP:0007970Congenital ptosis
HP:0000508Ptosis
http://purl.obolibrary.org/obo/GO_0046887positive regulation of hormone secretion
http://purl.obolibrary.org/obo/GO_1903532positive regulation of secretion by cell
HP:0007915Polymorphous posterior corneal dystrophy
HP:0011489Abnormal migration of corneal endothelium
HP:0011491Reduced number of corneal endothelial cells
HP:0011488Abnormal corneal endothelium morphology
HP:0032915Focal aware vocal automatism seizure
http://purl.obolibrary.org/obo/GO_0046888negative regulation of hormone secretion
http://purl.obolibrary.org/obo/GO_1903531negative regulation of secretion by cell
http://purl.obolibrary.org/obo/GO_0051048negative regulation of secretion
HP:0032914Focal aware perseverative automatism seizure
http://purl.obolibrary.org/obo/CHEBI_36299tricarboxylic acid monoanion
HP:0007913Reticular retinal dystrophy
HP:0007963Pattern dystrophy of the retina
HP:0032913Focal aware pedal automatism seizure
HP:0032912Focal aware manual automatism seizure
HP:0007929Peripheral retinal detachment
HP:0000541Retinal detachment
http://purl.obolibrary.org/obo/GO_0046883regulation of hormone secretion
http://purl.obolibrary.org/obo/GO_1903530regulation of secretion by cell
HP:0032908Focal aware undressing automatism seizure
HP:0032910Focal aware automatism seizure
HP:0032907Focal undressing automatism seizure
HP:0032906Focal head nodding automatism seizure
HP:0032905Focal sexual automatism seizure
HP:0032909Focal impaired awareness automatism seizure
HP:0032712Focal motor impaired awareness seizure
HP:0007922Hypermyelinated retinal nerve fibers
HP:0020119Abnormal retinal nerve fiber layer morphology
HP:0032900Focal manual automatism seizure
http://purl.obolibrary.org/obo/GO_0046878positive regulation of saliva secretion
http://purl.obolibrary.org/obo/GO_0060456positive regulation of digestive system process
http://purl.obolibrary.org/obo/GO_0051047positive regulation of secretion
HP:0032904Focal verbal automatism seizure
http://purl.obolibrary.org/obo/GO_0046877regulation of saliva secretion
http://purl.obolibrary.org/obo/GO_0051046regulation of secretion
http://purl.obolibrary.org/obo/GO_0044058regulation of digestive system process
http://purl.obolibrary.org/obo/GO_0044057regulation of system process
HP:0007925Lacrimal duct aplasia
HP:0032903Focal vocal automatism seizure
HP:0032902Focal perseverative automatism seizure
HP:0007924Slow decrease in visual acuity
HP:0000529Progressive visual loss
HP:0000572Visual loss
HP:0032901Focal pedal automatism seizure
HP:0007939Blue cone monochromacy
HP:0011517Cone monochromacy
HP:0007803Monochromacy
HP:0007933Broad lateral eyebrow
HP:0011229Broad eyebrow
HP:0007932Bilateral congenital mydriasis
HP:0011499Mydriasis
HP:0007686Abnormal pupillary function
HP:0007937Reticular pigmentary degeneration
HP:0007936Restrictive external ophthalmoplegia
HP:0000544External ophthalmoplegia
HP:0007935Juvenile posterior subcapsular lenticular opacities
HP:0007787Posterior subcapsular cataract
HP:0000523Subcapsular cataract
HP:0000518Cataract
http://purl.obolibrary.org/obo/UBERON_0013240future glans clitoris
HP:003030010 pairs of ribs
HP:0000921Missing ribs
HP:0006712Aplasia/Hypoplasia of the ribs
HP:0006711Aplasia/Hypoplasia involving bones of the thorax
HP:0032962Tubular microcystic change
HP:0032961Magnesium ammonium phosphate crystalluria
http://purl.obolibrary.org/obo/UBERON_0013241embryonic urethral groove
HP:0032960Intratubular calcium phosphate casts
http://purl.obolibrary.org/obo/UBERON_0001267femoral nerve
http://purl.obolibrary.org/obo/UBERON_0001269acetabular part of hip bone
http://purl.obolibrary.org/obo/UBERON_0001268peritoneal fluid
http://purl.obolibrary.org/obo/UBERON_0036217coelomic fluid
HP:0005363Humoral immunodeficiency
HP:0005365Severe B lymphocytopenia
http://purl.obolibrary.org/obo/UBERON_0001261lamina propria of urinary bladder
HP:0005366Recurrent streptococcus pneumoniae infections
HP:0020096Recurrent streptococcal infections
http://purl.obolibrary.org/obo/UBERON_0001260serosa of urinary bladder
HP:0030309Flared distal fibular metaphysis
http://purl.obolibrary.org/obo/UBERON_0001263pancreatic acinus
HP:0005360Susceptibility to chickenpox
http://purl.obolibrary.org/obo/UBERON_0001265trabecula of spleen
http://purl.obolibrary.org/obo/UBERON_0001264pancreas
http://purl.obolibrary.org/obo/UBERON_0013247male paramesonephric duct
HP:0032966Centrilobular emphysema
HP:003030611 thoracic vertebrae
HP:0030305Decreased number of vertebrae
HP:0032965Interstitial emphysema
HP:0032964Uric acid crystalluria
HP:0020074Crystalluria
HP:0030308Flared distal tibial metaphysis
HP:0030307Flared lower limb metaphysis
HP:0032963Complex renal cyst
HP:0030302Agenesis of the anterior commissure
HP:0032969Traction bronchiectasis
HP:0005369Decreased serum complement factor H
HP:0030303Hypoplastic anterior commissure
HP:0030301Abnormality of the anterior commissure
HP:0410401Worse in evening
HP:0032968Expiratory air trapping
HP:0030304Abnormal number of vertebrae
http://purl.obolibrary.org/obo/CHEBI_85234human blood serum metabolite
http://purl.obolibrary.org/obo/CHEBI_77746human metabolite
HP:0410400Absent sebaceous glands
HP:0032226Abnormal sebaceous gland morphology
HP:0032967Panacinar emphysema
HP:0002097Emphysema
http://purl.obolibrary.org/obo/GO_0007283spermatogenesis
http://purl.obolibrary.org/obo/GO_0048232male gamete generation
HP:0032950Abnormal renal tubular lumen morphology
http://purl.obolibrary.org/obo/GO_0007286spermatid development
http://purl.obolibrary.org/obo/GO_0007281germ cell development
http://purl.obolibrary.org/obo/GO_0048468cell development
http://purl.obolibrary.org/obo/GO_0007288sperm axoneme assembly
http://purl.obolibrary.org/obo/GO_0035082axoneme assembly
http://purl.obolibrary.org/obo/GO_0001578microtubule bundle formation
http://purl.obolibrary.org/obo/GO_0000226microtubule cytoskeleton organization
http://purl.obolibrary.org/obo/GO_0007010cytoskeleton organization
http://purl.obolibrary.org/obo/UBERON_0001279portal triad
http://purl.obolibrary.org/obo/GO_0007289spermatid nucleus differentiation
http://purl.obolibrary.org/obo/GO_0006997nucleus organization
http://purl.obolibrary.org/obo/UBERON_0001270bony pelvis
HP:0005376Recurrent Haemophilus influenzae infections
http://purl.obolibrary.org/obo/UBERON_0001272innominate bone
http://purl.obolibrary.org/obo/UBERON_0010428flat bone
http://purl.obolibrary.org/obo/UBERON_0001271pelvic girdle region
http://purl.obolibrary.org/obo/UBERON_0007823appendage girdle region
http://purl.obolibrary.org/obo/UBERON_0001274ischium
http://purl.obolibrary.org/obo/UBERON_0015056ischial endochondral element
http://purl.obolibrary.org/obo/UBERON_0001273ilium
http://purl.obolibrary.org/obo/UBERON_0015054iliac endochondral element
http://purl.obolibrary.org/obo/UBERON_0001276epithelium of stomach
http://purl.obolibrary.org/obo/UBERON_0001275pubis
http://purl.obolibrary.org/obo/UBERON_0008202bone of hip region
http://purl.obolibrary.org/obo/UBERON_0015055pubic endochondral element
http://purl.obolibrary.org/obo/UBERON_0007830pelvic girdle bone/zone
HP:0032955Renal tubular polyoma virus inclusions
HP:0032954Renal tubular adenovirus inclusions
HP:0032953Renal tubular cytomegalovirus inclusions
HP:0032952Usual-type tubular atrophy
HP:0000092Renal tubular atrophy
HP:0032599Abnormal renal tubular epithelial morphology
HP:0032959Intratubular calcium oxalate casts
HP:0032623Renal intratubular casts
HP:0032958Urinary oval fat bodies
HP:0032957Dysmorphic hematuria
HP:0000790Hematuria
HP:0012614Abnormal urine cytology
HP:0032956Renal tubular herpes simplex virus inclusions
HP:0032951Renal tubular viral cytopathic changes
HP:0032940Dissociative reaction
HP:0005390Recurrent opportunistic infections
HP:0031690Opportunistic infection
http://purl.obolibrary.org/obo/UBERON_0001281hepatic sinusoid
http://purl.obolibrary.org/obo/UBERON_0003909sinusoid
HP:0005386Recurrent protozoan infections
http://purl.obolibrary.org/obo/UBERON_0001280liver parenchyma
http://purl.obolibrary.org/obo/UBERON_0000353parenchyma
HP:0005387Combined immunodeficiency
http://purl.obolibrary.org/obo/UBERON_0001282intralobular bile duct
http://purl.obolibrary.org/obo/UBERON_0014716interlobular duct
http://purl.obolibrary.org/obo/UBERON_0035050excretory duct
HP:0032949Renal interstitial calcium phosphate deposits
HP:0032644Renal interstitial deposits
HP:0005381Recurrent meningococcal disease
http://purl.obolibrary.org/obo/UBERON_0001285nephron
HP:0032944Alkaline urine
HP:0032942Avoidance of stimuli associated with traumatic event
HP:0032941Intense psychological distress to cues
HP:0005389Depletion of components of the alternative complement pathway
http://purl.obolibrary.org/obo/CHEBI_38867anaesthetic
HP:0032948Renal interstitial fibrosis
HP:0032947Renal medullary interstitial inflammation
HP:0032946Renal cortical interstitial inflammation
HP:0032945Renal interstitial inflammation
http://purl.obolibrary.org/obo/CHEBI_26878tertiary alcohol
http://purl.obolibrary.org/obo/UBERON_0001299glans penis
http://purl.obolibrary.org/obo/UBERON_0035651glans
HP:0005396Susceptibility to coronavirus 229e
http://purl.obolibrary.org/obo/UBERON_0001294inner medulla of kidney
HP:0032939Physiological reactivity to cues
HP:0032938Recurrent trauma-related distressing dreams
http://purl.obolibrary.org/obo/UBERON_0001295endometrium
http://purl.obolibrary.org/obo/UBERON_0019042reproductive system mucosa
HP:0032933Airway hyperresponsiveness
HP:0032932Increased circulating pancreatic triacylglycerol lipase level
http://purl.obolibrary.org/obo/UBERON_0013279diaphysis of fibula
HP:0032930Lacunar halos around chondrocytes
HP:0032937Recurrent, involuntary and intrusive distressing memories
HP:0032936Intrusion symptom
HP:0032935Posterior crocodile shagreen of the cornea
HP:0007881Central corneal dystrophy
HP:0011493Central opacification of the cornea
HP:0007759Opacification of the corneal stroma
HP:0007957Corneal opacity
HP:0011492Abnormality of corneal stroma
HP:0032934Spontaneous cerebrospinal fluid leak
HP:0030341Decreased circulating follicle stimulating hormone level
HP:0030344Decreased circulating luteinizing hormone level
http://purl.obolibrary.org/obo/UBERON_0015860visceral abdominal lymph node
http://purl.obolibrary.org/obo/UBERON_0002507abdominal lymph node
http://purl.obolibrary.org/obo/UBERON_0001223left ureter
http://purl.obolibrary.org/obo/UBERON_0003885mesometrium
http://purl.obolibrary.org/obo/UBERON_0001297serosa of uterus
http://purl.obolibrary.org/obo/UBERON_0001222right ureter
http://purl.obolibrary.org/obo/UBERON_0000056ureter
http://purl.obolibrary.org/obo/UBERON_0003886future coelemic cavity lumen
http://purl.obolibrary.org/obo/UBERON_0001225cortex of kidney
http://purl.obolibrary.org/obo/UBERON_0003887intraembryonic coelom
http://purl.obolibrary.org/obo/UBERON_0001224renal pelvis
http://purl.obolibrary.org/obo/UBERON_0003889fallopian tube
http://purl.obolibrary.org/obo/UBERON_0013515subdivision of oviduct
http://purl.obolibrary.org/obo/UBERON_0001229renal corpuscle
http://purl.obolibrary.org/obo/UBERON_0001228renal papilla
HP:0007980Absent retinal pigment epithelium
HP:0007894Hypopigmentation of the fundus
HP:0005320Lack of facial subcutaneous fat
HP:0007485Absence of subcutaneous fat
HP:0008887Adipose tissue loss
HP:0003717Minimal subcutaneous fat
HP:0000291Abnormality of facial adipose tissue
HP:0005321Mandibulofacial dysostosis
HP:0004439Craniofacial dysostosis
http://purl.obolibrary.org/obo/GO_0032270positive regulation of cellular protein metabolic process
http://purl.obolibrary.org/obo/GO_0051247positive regulation of protein metabolic process
http://purl.obolibrary.org/obo/GO_0051173positive regulation of nitrogen compound metabolic process
HP:0005322Prominent nasal septum
HP:0000419Abnormality of the nasal septum
HP:0007984Electronegative electroretinogram
http://purl.obolibrary.org/obo/UBERON_0001221transversus abdominis muscle
http://purl.obolibrary.org/obo/UBERON_0002461anterior abdominal wall muscle
http://purl.obolibrary.org/obo/UBERON_0002378muscle of abdomen
HP:0005327Loss of facial expression
HP:0007988Macular hypopigmentation
HP:0005328Progeroid facial appearance
HP:0007495Prematurely aged appearance
HP:0007987Progressive visual field defects
HP:0005329Fixed facial expression
HP:0004673Decreased facial expression
HP:0007986Increased retinal vascularity
HP:0007985Retinal arteriolar occlusion
HP:0000630Abnormal retinal artery morphology
HP:0005323Hemifacial hypertrophy
HP:0000324Facial asymmetry
HP:0030345Abnormal circulating luteinizing hormone level
HP:0030346Abnormal circulating follicle-stimulating hormone level
HP:0005325Extension of hair growth on temples to lateral eyebrow
HP:0000599Abnormality of the frontal hairline
HP:0009553Abnormality of the hairline
HP:0011361Congenital abnormal hair pattern
HP:0005326Hypoplastic philtrum
HP:0000288Abnormality of the philtrum
HP:0030348Increased circulating androgen level
HP:0007989Intraretinal exudate
HP:0001147Retinal exudate
HP:0030330Multinucleated giant chondrocytes in epiphyseal cartilage
HP:0032929Abnormal chondrocyte morphology
HP:0030331Impaired stimulus-induced skin wrinkling
HP:0032990Localized pulmonary hemorrhage
http://purl.obolibrary.org/obo/UBERON_0015871facial lymph node
HP:0032995Decreased pulmonary fissure count
http://purl.obolibrary.org/obo/UBERON_0015870lymph node of head
HP:0032994Supernumerary pulmonary fissure
http://purl.obolibrary.org/obo/UBERON_0015873heel skin
http://purl.obolibrary.org/obo/UBERON_0001512skin of ankle
HP:0032993Abnormal pulmonary fissure count
HP:0032992Abnormal pulmonary fissure architecture
HP:0032991Abnormal pulmonary fissure morphology
HP:0002103Abnormal pleura morphology
http://purl.obolibrary.org/obo/UBERON_0001234left adrenal gland
http://purl.obolibrary.org/obo/UBERON_0003895hypaxial myotome region
http://purl.obolibrary.org/obo/PR_Q8K0105-oxoprolinase (mouse)
http://purl.obolibrary.org/obo/PR_0000116495-oxoprolinase
http://purl.obolibrary.org/obo/UBERON_0001233right adrenal gland
http://purl.obolibrary.org/obo/UBERON_0002369adrenal gland
http://purl.obolibrary.org/obo/UBERON_0006858adrenal/interrenal gland
http://purl.obolibrary.org/obo/UBERON_0001236adrenal medulla
http://purl.obolibrary.org/obo/UBERON_0003897axial muscle
http://purl.obolibrary.org/obo/UBERON_0001235adrenal cortex
http://purl.obolibrary.org/obo/UBERON_0003898skeletal muscle tissue of trunk
HP:0007990Hypoplastic iris stroma
HP:0007676Hypoplasia of the iris
HP:0008053Aplasia/Hypoplasia of the iris
HP:0000525Abnormality iris morphology
HP:0008055Aplasia/Hypoplasia affecting the uvea
HP:0005332Recurrent mandibular subluxations
http://purl.obolibrary.org/obo/UBERON_0003890Mullerian duct
http://purl.obolibrary.org/obo/UBERON_0001230glomerular capsule
http://purl.obolibrary.org/obo/UBERON_0003891stroma
HP:0007994Peripheral visual field loss
http://purl.obolibrary.org/obo/GO_0032286central nervous system myelin maintenance
http://purl.obolibrary.org/obo/UBERON_0001232collecting duct of renal tubule
http://purl.obolibrary.org/obo/UBERON_0003893capsule
HP:0007993Malformed lacrimal duct
http://purl.obolibrary.org/obo/UBERON_0003894liver primordium
http://purl.obolibrary.org/obo/UBERON_0009497epithelium of foregut-midgut junction
http://purl.obolibrary.org/obo/UBERON_0001231nephron tubule
http://purl.obolibrary.org/obo/UBERON_0004211nephron epithelium
http://purl.obolibrary.org/obo/UBERON_0004819kidney epithelium
http://purl.obolibrary.org/obo/UBERON_0009773renal tubule
http://purl.obolibrary.org/obo/UBERON_0006555excretory tube
HP:0007992Lattice retinal degeneration
HP:0007769Peripheral retinal degeneration
HP:0005338Sparse lateral eyebrow
HP:0045075Sparse eyebrow
HP:0100840Aplasia/Hypoplasia of the eyebrow
http://purl.obolibrary.org/obo/UBERON_0015875heel
http://purl.obolibrary.org/obo/UBERON_0005445segment of pes
http://purl.obolibrary.org/obo/UBERON_0012139segment of autopod
HP:0032999Increased fecal porphyrin
HP:0032483Abnormal fecal test result
HP:0030339Decreased circulating gonadotropin level
HP:0030338Abnormal circulating gonadotropin level
HP:0032998Increased cystatin C level
HP:0032997Decreased cystatin C level
HP:0032996Abnormal cystatin C level
HP:0005335Sleepy facial expression
HP:0005336Forehead hyperpigmentation
HP:0030336Absence of CD4-positive, CD25-positive regulatory T cells
HP:0030337Elevated CD4-positive, CD25-positive regulatory T cell count
HP:0030335Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count
HP:0030334Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology
HP:0030333Abnormal alpha-beta T cell morphology
HP:0032980Absent bronchoalveolar surfactant-protein C
HP:0030320Increased intervertebral space
HP:0032983Atoll sign
HP:0032982Intraalveolar phospholipid accumulation
HP:0032981Absent bronchoalveolar dimeric surfactant-protein B
http://purl.obolibrary.org/obo/UBERON_0001245anus
http://purl.obolibrary.org/obo/GO_0032287peripheral nervous system myelin maintenance
http://purl.obolibrary.org/obo/GO_0043217myelin maintenance
http://purl.obolibrary.org/obo/GO_0007009plasma membrane organization
http://purl.obolibrary.org/obo/UBERON_0001247falciform ligament
http://purl.obolibrary.org/obo/GO_0032289central nervous system myelin formation
http://purl.obolibrary.org/obo/UBERON_0001246interlobular bile duct
http://purl.obolibrary.org/obo/UBERON_0001249spleen lymphoid follicle
http://purl.obolibrary.org/obo/UBERON_0000444lymphoid follicle
http://purl.obolibrary.org/obo/GO_0032291axon ensheathment in central nervous system
HP:0005341Autonomic bladder dysfunction
HP:0012332Abnormal autonomic nervous system physiology
http://purl.obolibrary.org/obo/GO_0032290peripheral nervous system myelin formation
http://purl.obolibrary.org/obo/GO_0032288myelin assembly
HP:0005343Hypoplasia of the bladder
HP:0010476Aplasia/Hypoplasia of the bladder
http://purl.obolibrary.org/obo/GO_0032292peripheral nervous system axon ensheathment
http://purl.obolibrary.org/obo/GO_0008366axon ensheathment
http://purl.obolibrary.org/obo/CHEBI_24261glucocorticoid
HP:0005340Spastic/hyperactive bladder
HP:0000009Functional abnormality of the bladder
HP:0005349Hypoplasia of the epiglottis
HP:0010565Aplasia/Hypoplasia of the Epiglottis
HP:0032988Persistent head lag
HP:0030328Decreased osteoclast count
HP:0030327Abnormal osteoclast count
HP:0032987Elevated bronchoalveolar lavage fluid eosinophil proportion
HP:0030329Retinal thinning
HP:0032986Smoker-inclusions in alveolar macrophages
HP:0032985Dust particle inclusion in alveolar macrophages
HP:0005345Abnormal vena cava morphology
HP:0030323Unilateral vertebral artery hypoplasia
http://purl.obolibrary.org/obo/CHEBI_362423-(4-hydroxyphenyl)pyruvate
http://purl.obolibrary.org/obo/CHEBI_351792-oxo monocarboxylic acid anion
http://purl.obolibrary.org/obo/CHEBI_35902oxo monocarboxylic acid anion
http://purl.obolibrary.org/obo/CHEBI_35903oxo carboxylic acid anion
HP:0030324Bilateral vertebral artery hypoplasia
HP:0030322Vertebral artery hypoplasia
HP:0030321Abnormal vertebral artery morphology
HP:0005347Cartilaginous trachea
HP:0002778Abnormal trachea morphology
HP:0030325Cervicomedullary schisis
HP:0032989Delayed ability to roll over
HP:0002194Delayed gross motor development
HP:0001270Motor delay
HP:0012758Neurodevelopmental delay
HP:0012759Neurodevelopmental abnormality
http://purl.obolibrary.org/obo/UBERON_0013228sweat gland of eyelid
http://purl.obolibrary.org/obo/UBERON_0000382apocrine sweat gland
http://purl.obolibrary.org/obo/UBERON_0010243merocrine gland
http://purl.obolibrary.org/obo/UBERON_0001820sweat gland
HP:0030326Abnormal macrophage count
HP:0030311Lower extremity joint dislocation
http://purl.obolibrary.org/obo/UBERON_0013232serous acinus
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=553AOX1 (human)
HP:0032972Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT
HP:0025392Nodular pattern on pulmonary HRCT
HP:0032971Computed tomographic halo sign
HP:0025179Ground-glass opacification on pulmonary HRCT
HP:0031457Pulmonary opacity
http://purl.obolibrary.org/obo/UBERON_0013231sebaceous gland of eyelid
http://purl.obolibrary.org/obo/UBERON_0013229eyelid gland
HP:0032970Traction bronchiolectasis
http://purl.obolibrary.org/obo/UBERON_0001256wall of urinary bladder
http://purl.obolibrary.org/obo/UBERON_0001255urinary bladder
http://purl.obolibrary.org/obo/UBERON_0018707bladder organ
http://purl.obolibrary.org/obo/UBERON_0000489cavitated compound organ
http://purl.obolibrary.org/obo/UBERON_0001258neck of urinary bladder
http://purl.obolibrary.org/obo/UBERON_0001259mucosa of urinary bladder
HP:0005352Severe T-cell immunodeficiency
HP:0005374Cellular immunodeficiency
HP:0005354Lack of T cell function
http://purl.obolibrary.org/obo/UBERON_0001252adventitia of ureter
http://purl.obolibrary.org/obo/UBERON_0001253lamina propria of ureter
HP:0032977Elevated bronchoalveolar lavage fluid neutrophil proportion
HP:0032976Elevated bronchoalveolar lavage fluid lymphocyte proportion
HP:0030318Angular cheilitis
HP:0100825Cheilitis
HP:0032975Abnormal bronchoalveolar fluid protein level
http://purl.obolibrary.org/obo/UBERON_0013235ventrum
HP:0030319Weakness of facial musculature
http://purl.obolibrary.org/obo/CHEBI_362385beta-cholanic acid
http://purl.obolibrary.org/obo/CHEBI_36237cholanic acid
HP:0005356Decreased serum complement factor I
HP:0030312Obliteration of the calvarial diploe
HP:0005357Defective B cell differentiation
HP:0005384Defective B cell activation
HP:0030314Periostosis
http://purl.obolibrary.org/obo/CHEBI_36233disaccharide
http://purl.obolibrary.org/obo/CHEBI_50699oligosaccharide
HP:0032979Hemosiderin-laden macrophages in bronchoalveolar fluid
HP:0005359Aplasia of the thymus
HP:0010515Aplasia/Hypoplasia of the thymus
http://purl.obolibrary.org/obo/UBERON_0013239future glans penis
http://purl.obolibrary.org/obo/UBERON_0013238future glans
HP:0032978Lipid-laden macrophages in bronchoalveolar fluid
HP:0032984Abnormal alveolar macrophage morphology
HP:0032974Abnormal cellular composition of bronchoalveolar fluid
HP:0032973Abnormal bronchoalveolar lavage fluid morphology
http://purl.obolibrary.org/obo/UBERON_0003848gonadal vein
HP:0030265Wide penis
HP:0030264Webbed penis
http://purl.obolibrary.org/obo/UBERON_0003849mesencephalic neural crest
HP:0030267Calcification of the interosseus membrane of the forearm
HP:0030260Microphallus
HP:0008736Hypoplasia of penis
HP:0000050Hypoplastic male external genitalia
HP:0030261Absent penis
HP:0030262Narrow penis
HP:0030263Torsion of the penis
http://purl.obolibrary.org/obo/UBERON_0003842neural tube lumen
http://purl.obolibrary.org/obo/UBERON_0003844upper eyelid epithelium
http://purl.obolibrary.org/obo/UBERON_0003845lower eyelid epithelium
http://purl.obolibrary.org/obo/UBERON_0035034eyelid epithelium
http://purl.obolibrary.org/obo/UBERON_0003846thymus epithelium
http://purl.obolibrary.org/obo/UBERON_0003847thyroid artery
HP:0030268Hyperplastic callus formation
HP:0030269Increased serum insulin-like growth factor 1
HP:0030253Defective T cell proliferation
HP:0031379Abnormal T cell proliferation
HP:0031378Abnormal lymphocyte proliferation
HP:0031377Abnormal cell proliferation
HP:0030254Nail bed hemorrhage
HP:0030255Large intestinal polyposis
HP:0030256Small intestinal polyposis
HP:0200008Intestinal polyposis
HP:0005266Intestinal polyp
HP:0030250Pulmonary granulomatosis
HP:0030251Absence of memory B cells
HP:0030252Absence of mature B cells
HP:0010976B lymphocytopenia
http://purl.obolibrary.org/obo/UBERON_0003851diencephalon neural crest
http://purl.obolibrary.org/obo/UBERON_0003852rhombencephalon neural crest
http://purl.obolibrary.org/obo/UBERON_0003853spinal cord neural crest
http://purl.obolibrary.org/obo/UBERON_0003854spinal cord neural plate
http://purl.obolibrary.org/obo/UBERON_0003075neural plate
http://purl.obolibrary.org/obo/UBERON_0003857upper eyelid mesenchyme
http://purl.obolibrary.org/obo/UBERON_0003858lower eyelid mesenchyme
http://purl.obolibrary.org/obo/UBERON_0010330eyelid mesenchyme
http://purl.obolibrary.org/obo/UBERON_0015839molar epithelium
http://purl.obolibrary.org/obo/UBERON_0015838molar dental pulp
http://purl.obolibrary.org/obo/UBERON_0003850telencephalon neural crest
http://purl.obolibrary.org/obo/UBERON_0002342neural crest
HP:0030257Freckled genitalia
HP:0030258Hyperpigmented genitalia
http://purl.obolibrary.org/obo/UBERON_0015834duodenum lamina propria
http://purl.obolibrary.org/obo/UBERON_0001238lamina propria of small intestine
http://purl.obolibrary.org/obo/UBERON_0004780gastrointestinal system lamina propria
http://purl.obolibrary.org/obo/UBERON_0000030lamina propria
HP:0030259Hypopigmented genitalia
HP:0012293Abnormal genital pigmentation
http://purl.obolibrary.org/obo/UBERON_0015837incisor dental pulp
http://purl.obolibrary.org/obo/UBERON_0001754dental pulp
http://purl.obolibrary.org/obo/UBERON_0011825loose connective tissue
HP:0030242Portal vein thrombosis
http://purl.obolibrary.org/obo/GO_0010876lipid localization
HP:0030243Hepatic vein thrombosis
HP:0030245Intrapartum fever
http://purl.obolibrary.org/obo/GO_0010873positive regulation of cholesterol esterification
http://purl.obolibrary.org/obo/GO_0010872regulation of cholesterol esterification
HP:0030241Hypoplasia of deltoid muscle
HP:0008952Shoulder muscle hypoplasia
HP:0001464Aplasia/Hypoplasia involving the shoulder musculature
HP:0001435Abnormality of the shoulder girdle musculature
http://purl.obolibrary.org/obo/UBERON_0003862pedal digit 4 phalanx
http://purl.obolibrary.org/obo/UBERON_0015034pedal digit 4 phalanx endochondral element
http://purl.obolibrary.org/obo/UBERON_0001201serosa of stomach
http://purl.obolibrary.org/obo/UBERON_0001200submucosa of stomach
http://purl.obolibrary.org/obo/UBERON_0003863pedal digit 5 phalanx
http://purl.obolibrary.org/obo/UBERON_0015035pedal digit 5 phalanx endochondral element
http://purl.obolibrary.org/obo/GO_0009895negative regulation of catabolic process
http://purl.obolibrary.org/obo/UBERON_0003864middle phalanx of manus
http://purl.obolibrary.org/obo/GO_0009896positive regulation of catabolic process
http://purl.obolibrary.org/obo/GO_0009894regulation of catabolic process
http://purl.obolibrary.org/obo/UBERON_0001202pyloric sphincter
http://purl.obolibrary.org/obo/UBERON_0011185gastrointestinal sphincter
http://purl.obolibrary.org/obo/UBERON_0004590sphincter muscle
http://purl.obolibrary.org/obo/UBERON_0003865distal phalanx of manus
http://purl.obolibrary.org/obo/UBERON_0003866middle phalanx of pes
http://purl.obolibrary.org/obo/UBERON_0004301middle phalanx
http://purl.obolibrary.org/obo/UBERON_0001204mucosa of small intestine
http://purl.obolibrary.org/obo/UBERON_0003867distal phalanx of pes
http://purl.obolibrary.org/obo/UBERON_0004300distal phalanx
http://purl.obolibrary.org/obo/UBERON_0003868proximal phalanx of pes
http://purl.obolibrary.org/obo/UBERON_0004302proximal phalanx
http://purl.obolibrary.org/obo/UBERON_0003869presumptive ganglion
http://purl.obolibrary.org/obo/UBERON_0003861neural arch
http://purl.obolibrary.org/obo/UBERON_0015842incisor enamel organ
http://purl.obolibrary.org/obo/UBERON_0015843molar enamel organ
http://purl.obolibrary.org/obo/UBERON_0005176tooth enamel organ
http://purl.obolibrary.org/obo/UBERON_0015846incisor mesenchyme
http://purl.obolibrary.org/obo/UBERON_0003856uncondensed odontogenic mesenchyme
http://purl.obolibrary.org/obo/UBERON_0007529loose mesenchyme tissue
HP:0030246Maternal first trimester fever
HP:0030244Maternal fever in pregnancy
HP:0001945Fever
http://purl.obolibrary.org/obo/GO_0019217regulation of fatty acid metabolic process
http://purl.obolibrary.org/obo/GO_0010565regulation of cellular ketone metabolic process
HP:0030248Mesenteric venous thrombosis
HP:0030247Splanchnic vein thrombosis
HP:0004936Venous thrombosis
HP:0030249Enanthema
http://purl.obolibrary.org/obo/UBERON_0015847upper left incisor tooth
HP:0030231Glycogen accumulation in muscle fiber lysosomes
HP:0030232Increased sarcoplasmic glycogen
HP:0009051Increased muscle glycogen content
HP:0012269Abnormal muscle glycogen content
HP:0032891Focal motor aware seizure with version
HP:0011175Focal motor seizure with version
HP:0020217Focal motor aware seizure
HP:0002349Focal aware seizure
HP:0030233Bethlem sign
HP:0032890Focal impaired awareness sensory seizure with somatosensory features
HP:0011163Focal sensory seizure with somatosensory features
HP:0030234Highly elevated creatine kinase
HP:0032896Music-induced seizure
HP:0020207Reflex seizure
HP:0032895Febrile seizure outside the age of 3 months to 6 years
HP:0032894Seizure precipitated by febrile infection
HP:0030230Central core regions in muscle fibers
HP:0032893Gastroenteritis-related afebrile seizure
HP:0032892Infection-related seizure
http://purl.obolibrary.org/obo/UBERON_0001212duodenal gland
http://purl.obolibrary.org/obo/UBERON_0011148submucosal gland
http://purl.obolibrary.org/obo/UBERON_0000414mucous gland
http://purl.obolibrary.org/obo/UBERON_0001213intestinal villus
http://purl.obolibrary.org/obo/UBERON_0001216jejunal vein
http://purl.obolibrary.org/obo/GO_0009887animal organ morphogenesis
http://purl.obolibrary.org/obo/GO_0009653anatomical structure morphogenesis
http://purl.obolibrary.org/obo/UBERON_0001215inferior mesenteric vein
http://purl.obolibrary.org/obo/UBERON_0001217ileal vein
http://purl.obolibrary.org/obo/UBERON_0002017portal vein
HP:0030239Hypoplasia of the upper arm musculature
HP:0009016Upper limb muscle hypoplasia
HP:0001467Aplasia/Hypoplasia involving the musculature of the upper limbs
HP:0009128Aplasia/Hypoplasia involving the musculature of the extremities
HP:0032899Focal orofacial automatism seizure
HP:0032898Focal automatism seizure
HP:0011153Focal motor seizure
HP:0020219Motor seizure
http://purl.obolibrary.org/obo/UBERON_0015854interpedicular line
HP:0032897Focal impaired awareness sensory seizure with gustatory features
HP:0032787Focal impaired awareness sensory seizure
HP:0032716Focal non-motor impaired awareness seizure
HP:0002384Focal impaired awareness seizure
HP:0011160Focal sensory seizure with gustatory features
HP:0011157Focal sensory seizure
HP:0032679Focal non-motor seizure
HP:0030235Extremely elevated creatine kinase
http://purl.obolibrary.org/obo/GO_0010894negative regulation of steroid biosynthetic process
http://purl.obolibrary.org/obo/GO_0051055negative regulation of lipid biosynthetic process
http://purl.obolibrary.org/obo/GO_0045939negative regulation of steroid metabolic process
http://purl.obolibrary.org/obo/GO_0045833negative regulation of lipid metabolic process
http://purl.obolibrary.org/obo/GO_0010893positive regulation of steroid biosynthetic process
http://purl.obolibrary.org/obo/GO_0045940positive regulation of steroid metabolic process
http://purl.obolibrary.org/obo/GO_0046889positive regulation of lipid biosynthetic process
http://purl.obolibrary.org/obo/GO_0045834positive regulation of lipid metabolic process
http://purl.obolibrary.org/obo/GO_0009891positive regulation of biosynthetic process
http://purl.obolibrary.org/obo/GO_0050810regulation of steroid biosynthetic process
http://purl.obolibrary.org/obo/GO_0019218regulation of steroid metabolic process
http://purl.obolibrary.org/obo/GO_0046890regulation of lipid biosynthetic process
HP:0005290Internal carotid artery hypoplasia
HP:0005291Inflammatory arteriopathy
HP:0002633Vasculitis
HP:0005292Intimal thickening in the coronary arteries
http://purl.obolibrary.org/obo/CHEBI_26822sulfide
http://purl.obolibrary.org/obo/CHEBI_26820sulfates
HP:0005288Abnormality of the nares
HP:0005289Abnormality of the nasolabial region
http://purl.obolibrary.org/obo/CHEBI_38807calcium channel agonist
http://purl.obolibrary.org/obo/CHEBI_38808calcium channel modulator
http://purl.obolibrary.org/obo/CHEBI_38632membrane transport modulator
http://purl.obolibrary.org/obo/CHEBI_52208biophysical role
HP:0005285Absent nasal bridge
http://purl.obolibrary.org/obo/GO_0019230proprioception
HP:0030297Metaphyseal chondromatosis of ulna
HP:0030298Metaphyseal chondromatosis of humerus
HP:0030299Distal femoral metaphyseal abnormality
http://purl.obolibrary.org/obo/GO_0019219regulation of nucleobase-containing compound metabolic process
HP:0030293Fibular metaphyseal irregularity
HP:0030294Metaphyseal chondromatosis of tibia
http://purl.obolibrary.org/obo/CHEBI_26819sulfuric ester
http://purl.obolibrary.org/obo/CHEBI_37826sulfuric acid derivative
http://purl.obolibrary.org/obo/CHEBI_33424sulfur oxoacid derivative
HP:0030295Metaphyseal chondromatosis of femur
HP:0030296Metaphyseal chondromatosis of radius
HP:0030290Unossified sacrum
HP:0025370Abnormal ossification of the sacrum
HP:0030292Tibial metaphyseal irregularity
HP:0006491Abnormality of the tibial metaphysis
HP:0005297Premature occlusive vascular stenosis
HP:0004950Peripheral arterial stenosis
HP:0100545Arterial stenosis
http://purl.obolibrary.org/obo/PR_P31996macrosialin (mouse)
http://purl.obolibrary.org/obo/PR_000002064macrosialin
http://purl.obolibrary.org/obo/PR_000001883lysosome-associated membrane protein
http://purl.obolibrary.org/obo/PR_P31997carcinoembryonic antigen-related cell adhesion molecule 8 (human)
http://purl.obolibrary.org/obo/PR_000001332carcinoembryonic antigen-related cell adhesion molecule 8
HP:0005293Venous insufficiency
HP:0005294Arterial dissection
http://purl.obolibrary.org/obo/GO_0019221cytokine-mediated signaling pathway
HP:0005295Pseudocoarctation of the aorta
HP:0012303Abnormal aortic arch morphology
HP:0001679Abnormal aortic morphology
http://purl.obolibrary.org/obo/GO_0019226transmission of nerve impulse
http://purl.obolibrary.org/obo/GO_0035637multicellular organismal signaling
HP:0030286Atrophic superior cerebellar peduncle
HP:0007366Atrophy/Degeneration affecting the brainstem
http://purl.obolibrary.org/obo/UBERON_0003826upper leg bone
http://purl.obolibrary.org/obo/UBERON_0003829urethra muscle tissue
HP:0030282Posterior rib gap
HP:0030283Partial absence of the septum pellucidum
HP:0007375Abnormality of the septum pellucidum
http://purl.obolibrary.org/obo/GO_0007272ensheathment of neurons
HP:0030284Triangular tongue
HP:0000158Macroglossia
HP:0030285Splayed superior cerebellar peduncle
HP:0011932Abnormality of the superior cerebellar peduncle
HP:0011931Abnormality of the cerebellar peduncle
HP:0012501Abnormality of the brainstem white matter
HP:0002438Cerebellar malformation
http://purl.obolibrary.org/obo/GO_0007274neuromuscular synaptic transmission
http://purl.obolibrary.org/obo/GO_0007276gamete generation
HP:0030280Rib gap
http://purl.obolibrary.org/obo/UBERON_0003820prostate bud
http://purl.obolibrary.org/obo/UBERON_0004902urogenital sinus epithelium
http://purl.obolibrary.org/obo/UBERON_0009846embryonic cloacal epithelium
http://purl.obolibrary.org/obo/UBERON_0009521anal membrane endodermal component
http://purl.obolibrary.org/obo/UBERON_0012481cloacal epithelium
http://purl.obolibrary.org/obo/UBERON_0005153epithelial bud
http://purl.obolibrary.org/obo/UBERON_0005157epithelial fold
HP:0030281Cervical C3/C4 vertebral fusion
HP:0002949Fused cervical vertebrae
http://purl.obolibrary.org/obo/PR_P31994low affinity immunoglobulin gamma Fc region receptor II-b (human)
http://purl.obolibrary.org/obo/PR_000001481low affinity immunoglobulin gamma Fc region receptor II-b
http://purl.obolibrary.org/obo/PR_000001355immunoglobulin gamma Fc receptor II/III/IV
http://purl.obolibrary.org/obo/UBERON_0003822forelimb stylopod
http://purl.obolibrary.org/obo/UBERON_0008785upper limb segment
http://purl.obolibrary.org/obo/UBERON_0002472stylopod
http://purl.obolibrary.org/obo/UBERON_0003823hindlimb zeugopod
http://purl.obolibrary.org/obo/UBERON_0008784lower limb segment
http://purl.obolibrary.org/obo/UBERON_0002471zeugopod
http://purl.obolibrary.org/obo/UBERON_0002529limb segment
http://purl.obolibrary.org/obo/UBERON_0010538paired limb/fin segment
http://purl.obolibrary.org/obo/UBERON_0010758subdivision of organism along appendicular axis
http://purl.obolibrary.org/obo/UBERON_0015808eye epithelium
http://purl.obolibrary.org/obo/UBERON_0007625pigment epithelium of eye
http://purl.obolibrary.org/obo/PR_P16331phenylalanine-4-hydroxylase (mouse)
http://purl.obolibrary.org/obo/PR_000012234phenylalanine-4-hydroxylase
HP:0030275Ectopic scrotum
http://purl.obolibrary.org/obo/CHEBI_26836sulfuric acid
HP:0030276Small scrotum
HP:0030271Reduced erythrocyte 2,3-diphosphoglycerate concentration
HP:0030273Reduced red cell adenosine deaminase level
HP:0030274Accessory scrotum
http://purl.obolibrary.org/obo/GO_0007268chemical synaptic transmission
http://purl.obolibrary.org/obo/GO_0098916anterograde trans-synaptic signaling
http://purl.obolibrary.org/obo/GO_0099537trans-synaptic signaling
http://purl.obolibrary.org/obo/GO_0099536synaptic signaling
http://purl.obolibrary.org/obo/GO_0007267cell-cell signaling
http://purl.obolibrary.org/obo/GO_0023052signaling
http://purl.obolibrary.org/obo/UBERON_0003832esophagus muscle
HP:0030270Elevated red cell adenosine deaminase level
HP:0030272Abnormal erythrocyte enzyme level
http://purl.obolibrary.org/obo/UBERON_0003833abdominal segment muscle
http://purl.obolibrary.org/obo/CHEBI_26833sulfur atom
http://purl.obolibrary.org/obo/CHEBI_33303chalcogen
http://purl.obolibrary.org/obo/UBERON_0003836abdominal segment skin
HP:0030279Hypoplastic L5 vertebral pedicle
HP:0030278Hypoplastic vertebral pedicle
HP:0030277Abnormal vertebral pedicle morphology
http://purl.obolibrary.org/obo/UBERON_0015813middle ear epithelium
http://purl.obolibrary.org/obo/GO_0019249lactate biosynthetic process
http://purl.obolibrary.org/obo/GO_0006089lactate metabolic process
http://purl.obolibrary.org/obo/GO_1901617organic hydroxy compound biosynthetic process
http://purl.obolibrary.org/obo/GO_1901615organic hydroxy compound metabolic process
http://purl.obolibrary.org/obo/GO_0072330monocarboxylic acid biosynthetic process
http://purl.obolibrary.org/obo/GO_0046394carboxylic acid biosynthetic process
http://purl.obolibrary.org/obo/GO_0016053organic acid biosynthetic process
http://purl.obolibrary.org/obo/UBERON_0015814outer ear epithelium
http://purl.obolibrary.org/obo/GO_0046852positive regulation of bone remodeling
http://purl.obolibrary.org/obo/GO_0034105positive regulation of tissue remodeling
http://purl.obolibrary.org/obo/GO_0046851negative regulation of bone remodeling
http://purl.obolibrary.org/obo/GO_0034104negative regulation of tissue remodeling
http://purl.obolibrary.org/obo/GO_0046850regulation of bone remodeling
http://purl.obolibrary.org/obo/GO_0034103regulation of tissue remodeling
http://purl.obolibrary.org/obo/GO_0046849bone remodeling
http://purl.obolibrary.org/obo/GO_0048771tissue remodeling
http://purl.obolibrary.org/obo/GO_0140053mitochondrial gene expression
http://purl.obolibrary.org/obo/PR_Q02650paired box protein Pax-5 (mouse)
HP:0410395Increased proportion of effector memory CD8-positive, alpha-beta T cells
http://purl.obolibrary.org/obo/UBERON_5103631pedal digit 1 digitopodial skeleton
http://purl.obolibrary.org/obo/UBERON_5106048digit 1 digitopodial skeleton
HP:0410394Increased proportion of effector memory CD4-positive, alpha-beta T cells
http://purl.obolibrary.org/obo/UBERON_5103632pedal digit 2 digitopodial skeleton
http://purl.obolibrary.org/obo/UBERON_5103633pedal digit 3 digitopodial skeleton
HP:0410397Bronchiolectasis
HP:0410396Increased proportion of central memory CD8-positive, alpha-beta T cells
http://purl.obolibrary.org/obo/UBERON_5103634pedal digit 4 digitopodial skeleton
HP:0410390Decreased proportion of effector memory CD8-positive, alpha-beta T cells
HP:0410393Increased proportion of central memory CD4-positive, alpha-beta T cells
HP:0410391Increased proportion of CD4-positive, alpha-beta memory T cells
HP:0410392Increased proportion of CD8-positive, alpha-beta memory T cells
HP:0032184Increased proportion of memory T cells
HP:0410399Positive blood lead test
http://purl.obolibrary.org/obo/UBERON_5103635pedal digit 5 digitopodial skeleton
http://purl.obolibrary.org/obo/UBERON_5101466pedal digit digitopodial skeleton
http://purl.obolibrary.org/obo/UBERON_5103622manual digit 2 digitopodial skeleton
http://purl.obolibrary.org/obo/UBERON_5106049digit 2 digitopodial skeleton
http://purl.obolibrary.org/obo/UBERON_5103623manual digit 3 digitopodial skeleton
http://purl.obolibrary.org/obo/UBERON_5106050digit 3 digitopodial skeleton
http://purl.obolibrary.org/obo/UBERON_5103624manual digit 4 digitopodial skeleton
http://purl.obolibrary.org/obo/UBERON_5106051digit 4 digitopodial skeleton
http://purl.obolibrary.org/obo/UBERON_5103625manual digit 5 digitopodial skeleton
http://purl.obolibrary.org/obo/UBERON_5106052digit 5 digitopodial skeleton
http://purl.obolibrary.org/obo/UBERON_5102389manual digit digitopodial skeleton
http://purl.obolibrary.org/obo/UBERON_5102544individual digit of digitopodial skeleton
http://purl.obolibrary.org/obo/UBERON_0010712limb skeleton subdivision
http://purl.obolibrary.org/obo/GO_0010822positive regulation of mitochondrion organization
http://purl.obolibrary.org/obo/GO_0010638positive regulation of organelle organization
http://purl.obolibrary.org/obo/GO_0051130positive regulation of cellular component organization
http://purl.obolibrary.org/obo/GO_0010829negative regulation of glucose transmembrane transport
http://purl.obolibrary.org/obo/GO_0010828positive regulation of glucose transmembrane transport
http://purl.obolibrary.org/obo/GO_0010827regulation of glucose transmembrane transport
http://purl.obolibrary.org/obo/GO_0010823negative regulation of mitochondrion organization
http://purl.obolibrary.org/obo/GO_0010639negative regulation of organelle organization
http://purl.obolibrary.org/obo/GO_0051129negative regulation of cellular component organization
http://purl.obolibrary.org/obo/GO_0010821regulation of mitochondrion organization
http://purl.obolibrary.org/obo/GO_0033043regulation of organelle organization
http://purl.obolibrary.org/obo/GO_0051128regulation of cellular component organization
http://purl.obolibrary.org/obo/CHEBI_36141quinone
http://purl.obolibrary.org/obo/CHEBI_24163galactoside
http://purl.obolibrary.org/obo/CHEBI_35313hexoside
HP:0005404Increased B cell count
HP:0100827Lymphocytosis
HP:0001974Leukocytosis
http://purl.obolibrary.org/obo/CHEBI_36147oxo dicarboxylate
HP:0005406Recurrent bacterial skin infections
http://purl.obolibrary.org/obo/CHEBI_361492-hydroxyglutarate(1-)
http://purl.obolibrary.org/obo/CHEBI_35695dicarboxylic acid monoanion
HP:0005407Decreased proportion of CD4-positive helper T cells
HP:0500267Abnormal proportion of CD4-positive helper T cells
http://purl.obolibrary.org/obo/GO_0071754IgM immunoglobulin complex, circulating
http://purl.obolibrary.org/obo/GO_0071753IgM immunoglobulin complex
HP:0005401Recurrent candida infections
http://purl.obolibrary.org/obo/CHEBI_36145oxo dicarboxylic acid
http://purl.obolibrary.org/obo/CHEBI_25754oxo carboxylic acid
http://purl.obolibrary.org/obo/CHEBI_38793pteroate
HP:0005419Decreased T cell activation
HP:0005416Decreased serum complement factor B
http://purl.obolibrary.org/obo/CHEBI_38796pteroates
http://purl.obolibrary.org/obo/CHEBI_22494aminobenzoate
http://purl.obolibrary.org/obo/CHEBI_22718benzoates
http://purl.obolibrary.org/obo/CHEBI_38794pteroic acid
http://purl.obolibrary.org/obo/CHEBI_38795pteroic acids
HP:0005411Chronic intestinal candidiasis
HP:0002728Chronic mucocutaneous candidiasis
HP:0011370Recurrent cutaneous fungal infections
HP:0002841Recurrent fungal infections
HP:0020100Unusual fungal infection
HP:0001581Recurrent skin infections
HP:0005413Increased alpha-globulin
HP:0032311Increased circulating globulin level
http://purl.obolibrary.org/obo/GO_0071739IgD immunoglobulin complex, circulating
http://purl.obolibrary.org/obo/GO_0071738IgD immunoglobulin complex
http://purl.obolibrary.org/obo/CHEBI_36164amino dicarboxylic acid
http://purl.obolibrary.org/obo/CHEBI_35692dicarboxylic acid
http://purl.obolibrary.org/obo/CHEBI_131927dicarboxylic acids and O-substituted derivatives
HP:0005421Decreased serum complement C3
HP:0004431Complement deficiency
HP:0005428Severe recurrent varicella
HP:0005429Recurrent systemic pyogenic infections
HP:0005422Absence of CD8-positive T cells
HP:0005415Decreased proportion of CD8-positive T cells
HP:0005403Decrease in T cell count
HP:0001888Lymphopenia
HP:0031393Abnormal proportion of CD8-positive T cells
HP:0005423Dysfunctional alternative complement pathway
HP:0005424Absent specific antibody response
HP:0005425Recurrent sinopulmonary infections
HP:0002205Recurrent respiratory infections
HP:0011947Respiratory tract infection
http://purl.obolibrary.org/obo/GO_0071736IgG immunoglobulin complex, circulating
http://purl.obolibrary.org/obo/GO_0071735IgG immunoglobulin complex
HP:0005430Recurrent Neisserial infections
HP:0005420Recurrent gram-negative bacterial infections
HP:0002718Recurrent bacterial infections
HP:0005432Transient hypogammaglobulinemia of infancy
HP:0005437Recurrent infections in infancy and early childhood
http://purl.obolibrary.org/obo/CHEBI_61115EC 3.5.1.98 (histone deacetylase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_76807EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_76764EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor
http://purl.obolibrary.org/obo/CHEBI_76759EC 3.* (hydrolase) inhibitor
HP:0005439Maxillozygomatic hypoplasia
HP:0010669Hypoplasia of the zygomatic bone
http://purl.obolibrary.org/obo/GO_0071743IgE immunoglobulin complex, circulating
http://purl.obolibrary.org/obo/GO_0071742IgE immunoglobulin complex
http://purl.obolibrary.org/obo/GO_0071746IgA immunoglobulin complex, circulating
http://purl.obolibrary.org/obo/GO_0042571immunoglobulin complex, circulating
http://purl.obolibrary.org/obo/GO_0071745IgA immunoglobulin complex
HP:0005435Impaired T cell function
http://purl.obolibrary.org/obo/UBERON_0013162right lateral ventricle
http://purl.obolibrary.org/obo/UBERON_0013160epithalamus ventricular layer
http://purl.obolibrary.org/obo/UBERON_0004060neural tube ventricular layer
http://purl.obolibrary.org/obo/UBERON_0034706proliferating neuroepithelium
http://purl.obolibrary.org/obo/UBERON_0013161left lateral ventricle
http://purl.obolibrary.org/obo/UBERON_0002285telencephalic ventricle
http://purl.obolibrary.org/obo/UBERON_0004086brain ventricle
http://purl.obolibrary.org/obo/UBERON_0005358ventricle of nervous system
http://purl.obolibrary.org/obo/UBERON_0003947brain ventricle/choroid plexus
http://purl.obolibrary.org/obo/UBERON_0013167cricopharyngeal ligament
http://purl.obolibrary.org/obo/UBERON_0001189left testicular artery
http://purl.obolibrary.org/obo/UBERON_0001182superior mesenteric artery
http://purl.obolibrary.org/obo/CHEBI_48154sulfur oxide
http://purl.obolibrary.org/obo/UBERON_0001183inferior mesenteric artery
http://purl.obolibrary.org/obo/UBERON_0035039rectal artery
http://purl.obolibrary.org/obo/UBERON_0005616mesenteric artery
http://purl.obolibrary.org/obo/UBERON_0001186left renal artery
http://purl.obolibrary.org/obo/UBERON_0001185right renal artery
http://purl.obolibrary.org/obo/UBERON_0001184renal artery
http://purl.obolibrary.org/obo/UBERON_0001188right testicular artery
http://purl.obolibrary.org/obo/UBERON_0001187testicular artery
http://purl.obolibrary.org/obo/UBERON_0010192genital artery
http://purl.obolibrary.org/obo/UBERON_0013168thyroepiglottic ligament
http://purl.obolibrary.org/obo/UBERON_0006325laryngeal intrinsic ligament
http://purl.obolibrary.org/obo/UBERON_0013171cricothyroid ligament
http://purl.obolibrary.org/obo/UBERON_0013172cricotracheal ligament
http://purl.obolibrary.org/obo/GO_0044110growth involved in symbiotic interaction
http://purl.obolibrary.org/obo/GO_0044111development involved in symbiotic interaction
http://purl.obolibrary.org/obo/UBERON_0013170cricoarytenoid ligament
http://purl.obolibrary.org/obo/UBERON_0001730extrinsic ligament of larynx
http://purl.obolibrary.org/obo/UBERON_0001743ligament of larynx
http://purl.obolibrary.org/obo/UBERON_0001194splenic artery
http://purl.obolibrary.org/obo/UBERON_0001199mucosa of stomach
http://purl.obolibrary.org/obo/CHEBI_63794retinoid X receptor agonist
http://purl.obolibrary.org/obo/UBERON_0001191common iliac artery
http://purl.obolibrary.org/obo/UBERON_0012254abdominal aorta artery
http://purl.obolibrary.org/obo/UBERON_0005609iliac artery
http://purl.obolibrary.org/obo/GO_0044106cellular amine metabolic process
http://purl.obolibrary.org/obo/GO_0009308amine metabolic process
http://purl.obolibrary.org/obo/UBERON_0001190ovarian artery
http://purl.obolibrary.org/obo/UBERON_0013191ovarian cortex
http://purl.obolibrary.org/obo/UBERON_0001851cortex
http://purl.obolibrary.org/obo/UBERON_0013192ovarian medulla
http://purl.obolibrary.org/obo/UBERON_0000958medulla of organ
http://purl.obolibrary.org/obo/UBERON_0000471compound organ component
http://purl.obolibrary.org/obo/GO_0032109positive regulation of response to nutrient levels
http://purl.obolibrary.org/obo/GO_0032108negative regulation of response to nutrient levels
HP:0030420Vulvar adenocarcinoma
HP:0030421Epididymal neoplasm
http://purl.obolibrary.org/obo/UBERON_0015783smooth muscle layer in fatty layer of subcutaneous tissue
http://purl.obolibrary.org/obo/UBERON_0013122distal epiphysis of phalanx of pes
http://purl.obolibrary.org/obo/UBERON_0004448distal epiphysis of phalanx
http://purl.obolibrary.org/obo/UBERON_0004379distal epiphysis
http://purl.obolibrary.org/obo/UBERON_0013121proximal epiphysis of phalanx of pes
http://purl.obolibrary.org/obo/UBERON_0011973epiphysis of phalanx of pes
http://purl.obolibrary.org/obo/UBERON_0004447proximal epiphysis of phalanx
http://purl.obolibrary.org/obo/UBERON_0004446epiphysis of phalanx
http://purl.obolibrary.org/obo/UBERON_0004380proximal epiphysis
http://purl.obolibrary.org/obo/UBERON_0001437epiphysis
http://purl.obolibrary.org/obo/UBERON_0001146suprarenal vein
http://purl.obolibrary.org/obo/GO_0034763negative regulation of transmembrane transport
http://purl.obolibrary.org/obo/UBERON_0001145ovarian vein
http://purl.obolibrary.org/obo/UBERON_0001148median nerve
http://purl.obolibrary.org/obo/GO_0034764positive regulation of transmembrane transport
http://purl.obolibrary.org/obo/GO_0034762regulation of transmembrane transport
HP:0005490Postnatal macrocephaly
HP:0000256Macrocephaly
http://purl.obolibrary.org/obo/GO_0032105negative regulation of response to extracellular stimulus
http://purl.obolibrary.org/obo/GO_0032107regulation of response to nutrient levels
http://purl.obolibrary.org/obo/GO_0032106positive regulation of response to extracellular stimulus
http://purl.obolibrary.org/obo/GO_0032103positive regulation of response to external stimulus
http://purl.obolibrary.org/obo/GO_0032104regulation of response to extracellular stimulus
HP:0005484Postnatal microcephaly
HP:0000252Microcephaly
HP:0007364Aplasia/Hypoplasia of the cerebrum
HP:0005486Small fontanelle
HP:0005487Prominent metopic ridge
http://purl.obolibrary.org/obo/UBERON_0001142left renal vein
http://purl.obolibrary.org/obo/UBERON_0001141right renal vein
http://purl.obolibrary.org/obo/UBERON_0001140renal vein
HP:0005482Abnormality of the alternative complement pathway
HP:0005339Abnormality of complement system
http://purl.obolibrary.org/obo/UBERON_0001144testicular vein
HP:0005483Abnormal epiglottis morphology
HP:3000053Abnormality of hypopharynx
http://purl.obolibrary.org/obo/UBERON_0001143hepatic vein
http://purl.obolibrary.org/obo/UBERON_0013126vein of abdomen
HP:0030427Ossifying fibroma of the jaw
HP:0030426Ossifying fibroma
HP:0010614Fibroma
HP:0012316Fibrous tissue neoplasm
HP:0012290Mouth neoplasm
HP:0030428Cutaneous myxoma
http://purl.obolibrary.org/obo/UBERON_0013124left posterior cardinal vein
http://purl.obolibrary.org/obo/UBERON_0002065posterior cardinal vein
http://purl.obolibrary.org/obo/UBERON_0004344cardinal vein
http://purl.obolibrary.org/obo/UBERON_0015789cranial or facial muscle
http://purl.obolibrary.org/obo/UBERON_0015788olfactory apparatus chamber
http://purl.obolibrary.org/obo/UBERON_0015787upper respiratory conduit
HP:0030429Juvenile nasopharyngeal angiofibroma
HP:0030423Splenic cyst
HP:0025408Abnormal spleen morphology
HP:0001743Abnormality of the spleen
HP:0030424Epididymal cyst
HP:0009714Abnormality of the epididymis
HP:0030425Calcified ovarian cyst
HP:0000138Ovarian cyst
HP:0031065Abnormal ovarian morphology
HP:0030410Sebaceous gland carcinoma
http://purl.obolibrary.org/obo/GO_0007166cell surface receptor signaling pathway
http://purl.obolibrary.org/obo/UBERON_0001159sigmoid colon
http://purl.obolibrary.org/obo/UBERON_0001158descending colon
http://purl.obolibrary.org/obo/UBERON_0000168proximal-distal subdivision of colon
http://purl.obolibrary.org/obo/CHEBI_75787prokaryotic metabolite
HP:0005495Metopic suture patent to nasal root
http://purl.obolibrary.org/obo/CHEBI_38717carboxylic acid trianion
HP:0005498Midline skin dimples over anterior/posterior fontanelles
HP:0000236Abnormality of the anterior fontanelle
HP:0030419Bartholin gland carcinoma
http://purl.obolibrary.org/obo/UBERON_0001152cystic duct
http://purl.obolibrary.org/obo/UBERON_0001155colon
HP:0005494Premature posterior fontanelle closure
HP:0030415Sarcomatoid carcinoma of the tongue
http://purl.obolibrary.org/obo/UBERON_0013135interdental plate
HP:0030417Squamous cell carcinoma of the vulva
HP:0030418Vulvar melanoma
HP:0030416Vulvar neoplasm
HP:0030411Jejunal adenocarcinoma
HP:0030412Ileal adenocarcinoma
http://purl.obolibrary.org/obo/UBERON_0013139ligament of liver
http://purl.obolibrary.org/obo/UBERON_0008845nonskeletal ligament
HP:0030414Verrucous cell carcinoma of the tongue
HP:0030413Squamous cell carcinoma of the tongue
http://purl.obolibrary.org/obo/CHEBI_75771mouse metabolite
http://purl.obolibrary.org/obo/CHEBI_75772Saccharomyces cerevisiae metabolite
http://purl.obolibrary.org/obo/CHEBI_76946fungal metabolite
http://purl.obolibrary.org/obo/UBERON_0013142soleal vein
http://purl.obolibrary.org/obo/UBERON_0013143gastrocnemius vein
http://purl.obolibrary.org/obo/UBERON_0001551vein of hindlimb zeugopod
http://purl.obolibrary.org/obo/UBERON_0004261lower leg blood vessel
http://purl.obolibrary.org/obo/UBERON_0001168wall of small intestine
http://purl.obolibrary.org/obo/UBERON_0001167wall of stomach
http://purl.obolibrary.org/obo/UBERON_0001169wall of large intestine
http://purl.obolibrary.org/obo/UBERON_0001262wall of intestine
http://purl.obolibrary.org/obo/GO_0019172glyoxalase III activity
http://purl.obolibrary.org/obo/GO_0016836SDS dimers:PXLP dehydrate L-Thr to 2AA
http://purl.obolibrary.org/obo/GO_0016835carbon-oxygen lyase activity
http://purl.obolibrary.org/obo/GO_0016829PHYKPL tetramer hydrolyses 5PHL
http://purl.obolibrary.org/obo/UBERON_0001161body of stomach
HP:0030408Pineoblastoma
HP:0030409Renal transitional cell carcinoma
http://purl.obolibrary.org/obo/UBERON_0001166pylorus
http://purl.obolibrary.org/obo/UBERON_0001165pyloric antrum
http://purl.obolibrary.org/obo/UBERON_0009870zone of stomach
http://purl.obolibrary.org/obo/UBERON_0013148early midbrain vesicle
HP:0030404Glucagonoma
http://purl.obolibrary.org/obo/UBERON_0013149hindbrain vesicle
HP:0030405Pancreatic endocrine tumor
HP:0030406Primary peritoneal carcinoma
http://purl.obolibrary.org/obo/UBERON_0013147early mesencephalic vesicle
HP:0030407Pineocytoma
HP:0030400Abnormal platelet lysosome secretion
HP:0030401Abnormal platelet dense granule ATP/ADP ratio
HP:0012484Abnormal dense granules
HP:0011883Abnormal platelet granules
HP:0030403Spontaneous platelet aggregation
http://purl.obolibrary.org/obo/UBERON_0013151choroidal artery
http://purl.obolibrary.org/obo/UBERON_0013150future brain vesicle
http://purl.obolibrary.org/obo/UBERON_0010064open anatomical space
http://purl.obolibrary.org/obo/UBERON_00131561st arch mandibular endoderm
http://purl.obolibrary.org/obo/GO_0007186G protein-coupled receptor signaling pathway
http://purl.obolibrary.org/obo/GO_0007165signal transduction
http://purl.obolibrary.org/obo/UBERON_0001179peritoneal cavity
http://purl.obolibrary.org/obo/UBERON_0001178visceral peritoneum
http://purl.obolibrary.org/obo/UBERON_0022350visceral serous membrane
http://purl.obolibrary.org/obo/CHEBI_75768mammalian metabolite
http://purl.obolibrary.org/obo/CHEBI_75769B vitamin
http://purl.obolibrary.org/obo/CHEBI_50733nutraceutical
http://purl.obolibrary.org/obo/CHEBI_27314water-soluble vitamin
http://purl.obolibrary.org/obo/CHEBI_33229vitamin
http://purl.obolibrary.org/obo/CHEBI_27027micronutrient
http://purl.obolibrary.org/obo/CHEBI_33284nutrient
http://purl.obolibrary.org/obo/CHEBI_78295food component
http://purl.obolibrary.org/obo/CHEBI_52211physiological role
http://purl.obolibrary.org/obo/UBERON_0001171portal lobule
http://purl.obolibrary.org/obo/UBERON_0009911lobule
http://purl.obolibrary.org/obo/UBERON_0001173biliary tree
http://purl.obolibrary.org/obo/UBERON_0001172hepatic acinus
http://purl.obolibrary.org/obo/UBERON_0011858acinus of exocrine gland
http://purl.obolibrary.org/obo/UBERON_0009842glandular acinus
http://purl.obolibrary.org/obo/UBERON_0001175common hepatic duct
http://purl.obolibrary.org/obo/UBERON_0001174common bile duct
http://purl.obolibrary.org/obo/UBERON_0001177left hepatic duct
http://purl.obolibrary.org/obo/CHEBI_121095-aminolevulinate
http://purl.obolibrary.org/obo/UBERON_0001176right hepatic duct
http://purl.obolibrary.org/obo/UBERON_0013159epithalamus mantle layer
http://purl.obolibrary.org/obo/UBERON_0004061neural tube mantle layer
http://purl.obolibrary.org/obo/UBERON_0034707differentiating neuroepithelium
http://purl.obolibrary.org/obo/UBERON_0013158foregut-midgut junction gland
HP:0030462Abnormal amplitude of flash visual evoked potentials
HP:0030463Asymmetrical distribution of flash visual evoked potentials
HP:0030464Asymmetrical distribution of pattern reversal visual evoked potentials
HP:0030465Undetectable light-adapted electroretinogram
HP:0030460Abnormal timing of pattern reversal visual evoked potentials
HP:0100289Abnormality of pattern reversal visual evoked potentials
HP:0030461Abnormal timing of flash visual evoked potentials
HP:0007928Abnormal flash visual evoked potentials
http://purl.obolibrary.org/obo/UBERON_0001103diaphragm
http://purl.obolibrary.org/obo/UBERON_0003831respiratory system muscle
http://purl.obolibrary.org/obo/UBERON_0001105clavicle bone
http://purl.obolibrary.org/obo/UBERON_0007829pectoral girdle bone
http://purl.obolibrary.org/obo/UBERON_0007828girdle bone/zone
http://purl.obolibrary.org/obo/CHEBI_51721alpha,beta-unsaturated ketone
HP:0005441Sclerotic cranial sutures
HP:0005442Widely patent coronal suture
http://purl.obolibrary.org/obo/UBERON_0001100pectoralis minor
http://purl.obolibrary.org/obo/UBERON_0001495pectoral muscle
http://purl.obolibrary.org/obo/UBERON_0003830thoracic segment muscle
http://purl.obolibrary.org/obo/UBERON_0001774skeletal muscle of trunk
http://purl.obolibrary.org/obo/UBERON_0008196muscle of pectoral girdle
http://purl.obolibrary.org/obo/CHEBI_51718alpha,beta-unsaturated aldehyde
http://purl.obolibrary.org/obo/CHEBI_17478aldehyde
HP:0005449Bridged sella turcica
HP:0005445Widened posterior fossa
HP:0005446Obtuse angle of mandible
HP:0030452Chylolymphatic mesenteric cyst
HP:0030451Mesenteric cyst
HP:0100016Abnormality of mesentery morphology
HP:0030454Abnormal electrooculogram
http://purl.obolibrary.org/obo/UBERON_0015751inferior tarsal muscle
http://purl.obolibrary.org/obo/UBERON_0001112latissimus dorsi muscle
http://purl.obolibrary.org/obo/UBERON_0001115left lobe of liver
http://purl.obolibrary.org/obo/UBERON_0001114right lobe of liver
http://purl.obolibrary.org/obo/UBERON_0001113lobe of liver
http://purl.obolibrary.org/obo/UBERON_0001119right lobe of thyroid gland
HP:0005451Decreased cranial base ossification
http://purl.obolibrary.org/obo/UBERON_0001111intercostal muscle
HP:0005450Calvarial osteosclerosis
HP:0005456Absent ethmoidal sinuses
HP:0002689Absent paranasal sinuses
HP:0005453Absent/hypoplastic paranasal sinuses
HP:0009120Aplasia/Hypoplasia involving the sinuses
HP:3000040Abnormality of ethmoid sinus
HP:0030457Abnormal amplitude of pattern onset/offset visual evoked potentials
HP:0005458Premature closure of fontanelles
HP:0011328Abnormality of fontanelles
HP:0030458Abnormal timing of pattern onset/offset visual evoked potentials
HP:0030456Abnormality of pattern onset/offset visual evoked potentials
HP:0030455Abnormality of pattern visual evoked potentials
HP:0000649Abnormality of visual evoked potentials
HP:0030441Anal margin Paget's disease
HP:0030442Anal margin squamous cell carcinoma
HP:0030443Anal margin basal cell carcinoma
http://purl.obolibrary.org/obo/UBERON_0001125serratus ventralis
http://purl.obolibrary.org/obo/UBERON_0034908scapular muscle
http://purl.obolibrary.org/obo/UBERON_0001482muscle of shoulder
http://purl.obolibrary.org/obo/CHEBI_24149galactonic acid
http://purl.obolibrary.org/obo/CHEBI_33752hexonic acid
http://purl.obolibrary.org/obo/CHEBI_22301aldonic acid
http://purl.obolibrary.org/obo/CHEBI_33720carbohydrate acid
http://purl.obolibrary.org/obo/CHEBI_24148galactonate
http://purl.obolibrary.org/obo/CHEBI_33778galactonates
http://purl.obolibrary.org/obo/CHEBI_33760hexonate
HP:0005462Calcification of falx cerebri
HP:0010653Abnormality of the falx cerebri
HP:0010652Abnormal dura mater morphology
HP:0005463Elongated sella turcica
HP:0005465Facial hyperostosis
HP:0004493Craniofacial hyperostosis
http://purl.obolibrary.org/obo/PR_Q61147ceruloplasmin (mouse)
http://purl.obolibrary.org/obo/PR_000005794ceruloplasmin
http://purl.obolibrary.org/obo/UBERON_0001120left lobe of thyroid gland
http://purl.obolibrary.org/obo/UBERON_0001118lobe of thyroid gland
http://purl.obolibrary.org/obo/UBERON_0035075thymus subunit
http://purl.obolibrary.org/obo/UBERON_0009912anatomical lobe
HP:0005461Craniofacial disproportion
HP:0001999Abnormal facial shape
HP:0030448Soft tissue sarcoma
HP:0100242Sarcoma
HP:0030449Therapeutic abortion
http://purl.obolibrary.org/obo/UBERON_0015766epithelium of duct of salivary gland
http://purl.obolibrary.org/obo/UBERON_0034969epithelial layer of duct
HP:0005466Hypoplasia of the frontal bone
HP:0011218Abnormal shape of the frontal region
HP:0430000Abnormality of the frontal bone
HP:0030444Anal margin melanoma
HP:0030440Anal margin neoplasm
HP:0030446Atypical pulmonary carcinoid tumor
HP:0030445Pulmonary carcinoid tumor
HP:0100570Carcinoid tumor
HP:0005469Flat occiput
HP:0011217Abnormal shape of the occiput
HP:0012294Abnormality of the occipital bone
HP:0030447Merkel cell skin cancer
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=437ALPI (human)
HP:0030430Neuroma
HP:0030431Osteochondroma
http://purl.obolibrary.org/obo/CHEBI_63726neuroprotective agent
http://purl.obolibrary.org/obo/CHEBI_50267protective agent
HP:0030432Chondroblastoma
http://purl.obolibrary.org/obo/UBERON_0001137dorsum
http://purl.obolibrary.org/obo/UBERON_0001138superior mesenteric vein
http://purl.obolibrary.org/obo/UBERON_0005617mesenteric vein
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=439ALPP (human)
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=438ALPL (human)
HP:0005473Fusion of middle ear ossicles
HP:0004452Abnormality of the middle ear ossicles
HP:0008609Morphological abnormality of the middle ear
HP:0005476Widely patent sagittal suture
http://purl.obolibrary.org/obo/UBERON_0001131vertebral foramen
http://purl.obolibrary.org/obo/UBERON_0001130vertebral column
HP:0005472Orbital craniosynostosis
HP:3000030Abnormality of bony orbit of skull
HP:0001363Craniosynostosis
http://purl.obolibrary.org/obo/UBERON_0001132parathyroid gland
http://purl.obolibrary.org/obo/UBERON_0002368endocrine gland
HP:0030438Anal canal squamous cell carcinoma
HP:0030439Anal canal adenocarcinoma
HP:0030437Anal canal neoplasm
HP:0004378Abnormality of the anus
HP:0012732Anorectal anomaly
HP:0005477Progressive sclerosis of skull base
HP:0002694Sclerosis of skull base
HP:0030433Osteoid osteoma
HP:0100246Osteoma
HP:0005478Prominent frontal sinuses
HP:0002687Abnormality of frontal sinus
HP:0000245Abnormality of the paranasal sinuses
HP:0030434Pilomatrixoma
HP:0012842Skin appendage neoplasm
HP:0005479Decreased circulating IgE
HP:0030436Fibrofolliculoma
http://purl.obolibrary.org/obo/UBERON_0013118sulcus of brain
http://purl.obolibrary.org/obo/UBERON_0000093sulcus
HP:0030385Increased proportion of marginal zone B cells
http://purl.obolibrary.org/obo/UBERON_0003727intercostal nerve
http://purl.obolibrary.org/obo/UBERON_0003728mediastinum
HP:0030387Increased proportion of class-switched memory B cells
HP:0030388Decreased proportion of class-switched memory B cells
HP:0030386Abnormal proportion of class-switched memory B cells
HP:0030381Increased proportion of transitional B cells
HP:0030384Decreased proportion of marginal zone B cells
HP:0030383Abnormal proportion of marginal zone B cells
http://purl.obolibrary.org/obo/PR_000002977killer cell lectin-like receptor subfamily B member 1C
http://purl.obolibrary.org/obo/PR_000001874KLRB1-like protein
http://purl.obolibrary.org/obo/UBERON_0003721lingual nerve
HP:0030380Decreased proportion of transitional B cells
http://purl.obolibrary.org/obo/UBERON_0003723vestibular nerve
http://purl.obolibrary.org/obo/UBERON_0003724musculocutaneous nerve
http://purl.obolibrary.org/obo/UBERON_0003725cervical nerve plexus
http://purl.obolibrary.org/obo/UBERON_0001813spinal nerve plexus
http://purl.obolibrary.org/obo/UBERON_0001810nerve plexus
http://purl.obolibrary.org/obo/UBERON_0003726thoracic nerve
http://purl.obolibrary.org/obo/UBERON_0001780spinal nerve
HP:0030389Abnormal circulating thromboxane concentration
HP:0030374Decreased proportion of memory B cells
HP:0030375Increased proportion of memory B cells
http://purl.obolibrary.org/obo/GO_0010720positive regulation of cell development
http://purl.obolibrary.org/obo/GO_0045597positive regulation of cell differentiation
http://purl.obolibrary.org/obo/GO_0051094positive regulation of developmental process
HP:0030377Increased proportion of immature B cells
http://purl.obolibrary.org/obo/GO_0010721negative regulation of cell development
http://purl.obolibrary.org/obo/GO_0060284regulation of cell development
http://purl.obolibrary.org/obo/GO_0045596negative regulation of cell differentiation
http://purl.obolibrary.org/obo/GO_0045595regulation of cell differentiation
http://purl.obolibrary.org/obo/GO_0051093negative regulation of developmental process
http://purl.obolibrary.org/obo/GO_0050793regulation of developmental process
HP:0030371Increased proportion of naive B cells
HP:0030372Decreased proportion of naive B cells
HP:0030370Abnormal proportion of naive B cells
HP:0030373Abnormal proportion of memory B cells
http://purl.obolibrary.org/obo/UBERON_0015717smooth muscle tissue layer of ejaculatory duct
HP:0030378Decreased proportion of immature B cells
HP:0030376Abnormal proportion of immature B cells
HP:0030379Abnormal proportion of transitional B cells
HP:0025539Abnormal B cell subset distribution
HP:0010975Abnormal B cell count
HP:0002846Abnormal B cell morphology
http://purl.obolibrary.org/obo/UBERON_0015716anal canal epithelium
http://purl.obolibrary.org/obo/UBERON_0014703anal membrane ectodermal component
HP:0030363Primary Caesarian section
HP:0030364Secondary Caesarian section
HP:0011410Caesarian section
HP:0030365Vaginal birth after Caesarian
HP:0030366Delivery by Odon device
HP:0030360Large cell lung carcinoma
HP:0030362Reduced muscle carnitine level
http://purl.obolibrary.org/obo/GO_0007113endomitotic cell cycle
http://purl.obolibrary.org/obo/GO_0000278mitotic cell cycle
http://purl.obolibrary.org/obo/GO_0007049cell cycle
http://purl.obolibrary.org/obo/PR_P04275von Willebrand factor (human)
http://purl.obolibrary.org/obo/PR_000017364von Willebrand factor
HP:0030368Hyperphalangy of the 2nd finger
HP:0030367Finger hyperphalangy
HP:0030369Induced vaginal delivery
HP:0001787Abnormal delivery
HP:0030353Decreased serum insulin-like growth factor 1
HP:0030352Abnormal serum insulin-like growth factor 1 level
HP:0030350Erythematous papule
HP:0200034Papule
HP:0030351Urticarial plaque
HP:0200035Skin plaque
HP:0030356Increased serum interferon-gamma level
HP:0030355Abnormal serum interferon-gamma level
HP:0030354Abnormal serum interferon level
HP:0030357Small cell lung carcinoma
http://purl.obolibrary.org/obo/CHEBI_85046skin lightening agent
http://purl.obolibrary.org/obo/CHEBI_64857cosmetic
HP:0030359Squamous cell lung carcinoma
HP:0030358Non-small cell lung carcinoma
HP:0100526Neoplasm of the lung
HP:0100606Neoplasm of the respiratory system
http://purl.obolibrary.org/obo/PR_P04216Thy-1 membrane glycoprotein (human)
http://purl.obolibrary.org/obo/PR_000001843Thy-1 membrane glycoprotein
http://purl.obolibrary.org/obo/CHEBI_26708sodium atom
http://purl.obolibrary.org/obo/CHEBI_22314alkali metal atom
http://purl.obolibrary.org/obo/CHEBI_33559s-block element atom
http://purl.obolibrary.org/obo/CHEBI_33521metal atom
http://purl.obolibrary.org/obo/GO_0009792embryo development ending in birth or egg hatching
http://purl.obolibrary.org/obo/GO_0009790embryo development
http://purl.obolibrary.org/obo/GO_0007275multicellular organism development
http://purl.obolibrary.org/obo/PR_P06879prolactin (mouse)
http://purl.obolibrary.org/obo/CHEBI_1446374-hydroxy-D-proline
http://purl.obolibrary.org/obo/CHEBI_203924-hydroxyproline
http://purl.obolibrary.org/obo/CHEBI_86499monohydroxyproline
http://purl.obolibrary.org/obo/CHEBI_84185D-proline derivative
http://purl.obolibrary.org/obo/CHEBI_26273proline derivative
http://purl.obolibrary.org/obo/CHEBI_83812non-proteinogenic amino acid derivative
http://purl.obolibrary.org/obo/UBERON_0003706laryngeal vocal fold
http://purl.obolibrary.org/obo/UBERON_0034681vocal organ
http://purl.obolibrary.org/obo/UBERON_0003707sinus of Valsalva
http://purl.obolibrary.org/obo/UBERON_0003709circle of Willis
http://purl.obolibrary.org/obo/GO_0007154cell communication
http://purl.obolibrary.org/obo/UBERON_0003700temporomandibular joint
http://purl.obolibrary.org/obo/UBERON_0011171joint connecting upper and lower jaws
http://purl.obolibrary.org/obo/UBERON_0003701calcaneal tendon
http://purl.obolibrary.org/obo/UBERON_0000043tendon
http://purl.obolibrary.org/obo/UBERON_0007846dense regular connective tissue
http://purl.obolibrary.org/obo/UBERON_0007845regular connective tissue
http://purl.obolibrary.org/obo/UBERON_0004270lower leg connective tissue
http://purl.obolibrary.org/obo/UBERON_0008846skeletal ligament
http://purl.obolibrary.org/obo/UBERON_0003702inguinal canal
http://purl.obolibrary.org/obo/GO_0007159leukocyte cell-cell adhesion
http://purl.obolibrary.org/obo/GO_0098609cell-cell adhesion
http://purl.obolibrary.org/obo/GO_0007155cell adhesion
http://purl.obolibrary.org/obo/GO_0022610biological adhesion
http://purl.obolibrary.org/obo/UBERON_0003703extrahepatic bile duct
http://purl.obolibrary.org/obo/UBERON_0003704intrahepatic bile duct
http://purl.obolibrary.org/obo/UBERON_0002394bile duct
http://purl.obolibrary.org/obo/UBERON_0003716recurrent laryngeal nerve
http://purl.obolibrary.org/obo/UBERON_0035642laryngeal nerve
http://purl.obolibrary.org/obo/PR_000002980lymphocyte antigen 6C2
HP:0030398Abnormal platelet ATP dense granule secretion
HP:0030397Abnormal platelet dense granule secretion
HP:0030399Abnormal platelet alpha granule secretion
HP:0030396Abnormal platelet granule secretion
HP:0030392Choroid plexus carcinoma
HP:0007376Abnormality of the choroid plexus
HP:0002118Abnormality of the cerebral ventricles
HP:0030393Endolymphatic sac tumor
HP:0030394Fallopian tube carcinoma
HP:0033020Female reproductive system neoplasm
http://purl.obolibrary.org/obo/GO_0007142male meiosis II
http://purl.obolibrary.org/obo/GO_0007135meiosis II
http://purl.obolibrary.org/obo/GO_0061983meiosis II cell cycle process
http://purl.obolibrary.org/obo/GO_0007140male meiotic nuclear division
http://purl.obolibrary.org/obo/GO_0140013meiotic nuclear division
http://purl.obolibrary.org/obo/GO_1903046meiotic cell cycle process
http://purl.obolibrary.org/obo/GO_0022402cell cycle process
http://purl.obolibrary.org/obo/GO_0000280nuclear division
http://purl.obolibrary.org/obo/GO_0048285organelle fission
http://purl.obolibrary.org/obo/GO_0022412cellular process involved in reproduction in multicellular organism
HP:0030390Reduced circulating leukotriene C4 concentration
HP:0030361Abnormal circulating eicosanoid concentration
HP:0011022Abnormal circulating unsaturated fatty acid concentration
HP:0030391Spoken Word Recognition Deficit
HP:0002463Language impairment
http://purl.obolibrary.org/obo/UBERON_0003711brachiocephalic vein
http://purl.obolibrary.org/obo/UBERON_0003713splenic vein
http://purl.obolibrary.org/obo/CHEBI_26712sodium molecular entity
http://purl.obolibrary.org/obo/CHEBI_33296alkali metal molecular entity
http://purl.obolibrary.org/obo/UBERON_0003714neural tissue
http://purl.obolibrary.org/obo/PR_000002981lymphocyte antigen 76 (mouse)
http://purl.obolibrary.org/obo/UBERON_0003715splanchnic nerve
http://purl.obolibrary.org/obo/UBERON_0034729sympathetic nerve
http://purl.obolibrary.org/obo/PR_000002978lymphocyte antigen 6G
http://purl.obolibrary.org/obo/PR_000002979lymphocyte antigen 6A-2/6E-1
http://purl.obolibrary.org/obo/PR_000002976Ly-6-like protein
http://purl.obolibrary.org/obo/PR_P41272CD27 antigen (mouse)
http://purl.obolibrary.org/obo/PR_000001963CD27 molecule
http://purl.obolibrary.org/obo/PR_P16297interleukin-2 receptor subunit beta (mouse)
http://purl.obolibrary.org/obo/PR_000001381interleukin-2 receptor subunit beta
HP:0005520Chronic disseminated intravascular coagulation
HP:0410249Increased anti-alpha-gal IgE antibody level
HP:0005525Spontaneous hemolytic crises
HP:0410248Increased anti-house dust mite IgE antibody level
HP:0005527Reduced kininogen activity
HP:0005528Bone marrow hypocellularity
HP:0012145Abnormality of multiple cell lineages in the bone marrow
HP:0005521Disseminated intravascular coagulation
HP:0001977Abnormal thrombosis
HP:0410245Decreased circulating IgD
HP:0005522Pyridoxine-responsive sideroblastic anemia
HP:0001924Sideroblastic anemia
HP:0410247Increased anti-animal dander IgE antibody level
HP:0410246Increased circulating IgD level
HP:0410244Abnormal circulating IgD level
HP:0005524Macrocytic hemolytic disease
HP:0410230Increased anti-nut food product IgE antibody level
HP:0410232Increased anti-fungi IgE antibody level
HP:0005531Biphenotypic acute leukemia
HP:0002488Acute leukemia
HP:0410231Increased anti-egg IgE antibody level
HP:0410238Increased anti-plant product IgE antibody level
HP:0005537Decreased mean platelet volume
HP:0005539T cell chronic lymphocytic lymphoma/leukemia
HP:0005526Lymphoid leukemia
HP:0410239Positive urine norcotinine test
HP:0005532Macrocytic dyserythropoietic anemia
HP:0410234Increased anti-parasite IgE antibody level
HP:0410233Increased anti-meat allergen IgE antibody level
HP:0005534Transient myeloproliferative syndrome
HP:0410236Increased anti-venom IgE antibody level
HP:0005535Exercise-induced hemolysis
HP:0410235Increased anti-insect IgE antibody level
HP:0005540Red blood cell keratocytosis
HP:0004447Poikilocytosis
HP:0410262Lower cranial nerve dysfunction
HP:0031910Abnormal cranial nerve physiology
HP:0005541Congenital agranulocytosis
HP:0012234Agranulocytosis
HP:0001913Granulocytopenia
HP:0001882Leukopenia
HP:0410265Supraglottic hemangioma
HP:0005542Prolonged whole-blood clotting time
HP:0410264Subglottic hemangioma
HP:0410261Wide space between 4th and 5th toe
HP:0010321Abnormality of the 4th toe
HP:0410260Asymmetrical gluteal crease
HP:0005547Myeloproliferative disorder
HP:0005548Megakaryocytopenia
http://purl.obolibrary.org/obo/CHEBI_61469polyanionic polymer
http://purl.obolibrary.org/obo/CHEBI_60164ionic polymer
http://purl.obolibrary.org/obo/CHEBI_60027polymer
http://purl.obolibrary.org/obo/CHEBI_60004mixture
http://purl.obolibrary.org/obo/CHEBI_59999chemical substance
HP:0005543Reduced protein C activity
HP:0410267Intestinal hemangioma
HP:0410266Visceral hemangioma
HP:0410269Labial hemangioma
HP:0005546Increased red cell osmotic resistance
HP:0410268Spleen hemangioma
HP:0005550Chronic lymphatic leukemia
HP:0410251Abnormal L-selectin shedding
HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow
HP:0410253Chronic neutropenia in myeloid maturation arrest in bone marrow
HP:0410252Chronic neutropenia
HP:0005559Abnormality of the kinin-kallikrein system
HP:0410259Hepatopulmonary fusion
HP:0410256Infection associated neutropenia
HP:0410255Transient neutropenia
HP:0005556Abnormality of the metopic suture
HP:0000290Abnormality of the forehead
HP:0011329Abnormality of cranial sutures
HP:0000235Abnormality of the fontanelles or cranial sutures
HP:0410258Neutrophilia in absence of infection
HP:0005557Abnormality of the zygomatic arch
HP:0010668Abnormality of the zygomatic bone
HP:0410257Neutrophilia in presence of infection
HP:0011897Neutrophilia
HP:0410209Folate deficiency in CSF
HP:0500188Decreased CSF valine concentration
HP:0500186Abnormal CSF valine concentration
HP:0500185Abnormal CSF branched chain amino acid concentration
HP:0500184Abnormal CSF amino acid concentration
HP:0500183Abnormal CSF carboxylic acid concentration
HP:0410208Positive plasma/serum cotinine test
http://purl.obolibrary.org/obo/UBERON_0001068skin of back
HP:0030507Retinal crystals
HP:0030508Retinal cavernous hemangioma
http://purl.obolibrary.org/obo/UBERON_0001064ventral pancreatic duct
http://purl.obolibrary.org/obo/UBERON_0007329pancreatic duct
http://purl.obolibrary.org/obo/UBERON_0003928digestive system duct
HP:0030509Retinal racemose hemangioma
http://purl.obolibrary.org/obo/UBERON_0001067vertebral arch joint
HP:0030503Macular telangiectasia
HP:0007763Retinal telangiectasia
HP:0030504Grouped congenital hypertrophy of retinal pigment epithelium
HP:0007649Congenital hypertrophy of retinal pigment epithelium
HP:0011512Hyperpigmentation of the fundus
HP:0031605Abnormality of fundus pigmentation
HP:0410204Increased intestinal transit time
HP:0410207Positive methadone plasma/serum test
HP:0500100Plasma/serum xenobiotic
HP:0030505Nummular pigmentation of the fundus
HP:0000580Pigmentary retinopathy
HP:0007703Abnormality of retinal pigmentation
HP:0410206Increased circulating nicotinurate level
HP:0410205Abnormal circulating nicotinurate level
HP:0410201Positive hair barbiturate test
HP:0500099Hair xenobiotic
HP:0410200Positive meconium barbiturate test
HP:0410203Positive gastric fluid barbiturate test
HP:0500101Gastric fluid xenobiotic
HP:0030501Macular crystals
HP:0030502Retinoschisis
HP:0410202Positive stool barbiturate test
http://purl.obolibrary.org/obo/UBERON_0001079prezygapophysis
http://purl.obolibrary.org/obo/UBERON_0001072posterior vena cava
http://purl.obolibrary.org/obo/UBERON_0004087vena cava
http://purl.obolibrary.org/obo/UBERON_0001071superficial cervical artery
http://purl.obolibrary.org/obo/UBERON_0012320cervical artery
http://purl.obolibrary.org/obo/UBERON_0001074pericardial cavity
http://purl.obolibrary.org/obo/UBERON_0002323coelemic cavity lumen
http://purl.obolibrary.org/obo/UBERON_0035809serous cavity
http://purl.obolibrary.org/obo/UBERON_0002553anatomical cavity
http://purl.obolibrary.org/obo/UBERON_0001073ileocecal junction
http://purl.obolibrary.org/obo/UBERON_0001076neural spine
http://purl.obolibrary.org/obo/UBERON_0001075bony vertebral centrum
http://purl.obolibrary.org/obo/UBERON_0016491vertebral centrum element
http://purl.obolibrary.org/obo/UBERON_0001078pedicle of vertebra
http://purl.obolibrary.org/obo/UBERON_0001077transverse process of vertebra
http://purl.obolibrary.org/obo/UBERON_0001070external carotid artery
http://purl.obolibrary.org/obo/UBERON_0005396carotid artery segment
HP:0005507Hemoglobin Barts
HP:0005508Monoclonal immunoglobulin M proteinemia
HP:0031047Paraproteinemia
HP:0005523Lymphoproliferative disorder
http://purl.obolibrary.org/obo/UBERON_0001083myocardium of ventricle
http://purl.obolibrary.org/obo/UBERON_0002349myocardium
http://purl.obolibrary.org/obo/UBERON_0018260layer of muscle tissue
http://purl.obolibrary.org/obo/UBERON_0001082epicardium of ventricle
http://purl.obolibrary.org/obo/UBERON_0002348epicardium
http://purl.obolibrary.org/obo/UBERON_0001085skin of trunk
HP:0410221Increased anti-animal protein IgE antibody level
HP:0410220Increased anti-dairy protein IgE antibody level
http://purl.obolibrary.org/obo/UBERON_0001087pleural fluid
http://purl.obolibrary.org/obo/UBERON_0036244secretion of serous membrane
http://purl.obolibrary.org/obo/UBERON_0001089sweat
http://purl.obolibrary.org/obo/UBERON_0001088urine
http://purl.obolibrary.org/obo/UBERON_0000174excreta
HP:0410226Increased anti-feather IgE antibody level
HP:0410229Increased anti-gluten IgE antibody level
http://purl.obolibrary.org/obo/UBERON_0013069popliteal area
HP:0005505Refractory anemia
HP:0005506Chronic myelogenous leukemia
HP:0005558Chronic leukemia
HP:0001909Leukemia
HP:0410228Increased anti-plant based food allergen IgE antibody level
HP:0410223Increased anti-dust mite IgE antibody level
HP:0410222Increased anti-seafood IgE antibody level
HP:0410227Increased anti-food allergen IgE antibody level
http://purl.obolibrary.org/obo/UBERON_0001081endocardium of ventricle
http://purl.obolibrary.org/obo/UBERON_0002165endocardium
HP:0410225Increased anti-drug IgE antibody level
HP:0005502Increased red cell osmotic fragility
HP:0020054Abnormal erythrocyte physiology
http://purl.obolibrary.org/obo/UBERON_0001080postzygapophysis
http://purl.obolibrary.org/obo/UBERON_0006062zygapophysis
http://purl.obolibrary.org/obo/UBERON_0006061process of vertebra
http://purl.obolibrary.org/obo/UBERON_4100000skeletal element projection
HP:0410224Increased anti-bacteria IgE antibody level
HP:0032336Increased circulating specific IgE antibody
HP:0005518Increased mean corpuscular volume
HP:0025065Abnormal mean corpuscular volume
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=399ALB (human)
http://purl.obolibrary.org/obo/GO_0140243regulation of translation at synapse
HP:0410219Hypoplasia of mandible relative to maxilla
http://purl.obolibrary.org/obo/GO_0140241translation at synapse
http://purl.obolibrary.org/obo/UBERON_0001094sacral vertebra
http://purl.obolibrary.org/obo/UBERON_0015010sacral vertebra endochondral element
http://purl.obolibrary.org/obo/UBERON_0001093vertebral bone 2
http://purl.obolibrary.org/obo/UBERON_0001096wall of esophagus
http://purl.obolibrary.org/obo/UBERON_0000328gut wall
http://purl.obolibrary.org/obo/UBERON_0001095caudal vertebra
http://purl.obolibrary.org/obo/UBERON_0018142caudal vertebra endochondral element
HP:0410215Hypocapnia in cord blood
HP:0012417Hypocapnia
HP:0410218Hypoplasia of maxilla relative to mandible
HP:0000327Hypoplasia of the maxilla
HP:0009117Aplasia/Hypoplasia of the maxilla
HP:0005517T-cell lymphoma/leukemia
HP:0012190T-cell lymphoma
HP:0012539Non-Hodgkin lymphoma
HP:0002665Lymphoma
HP:0004377Hematological neoplasm
HP:0410217Reduced blood 5-methyltetrahydrofolate level
HP:0410216Abnormal blood 5-methyltetrahydrofolate level
HP:0005510Transient erythroblastopenia
HP:0410212Hyperoxemia in cord blood
HP:0012419Hyperoxemia
http://purl.obolibrary.org/obo/UBERON_0001090synovial fluid
http://purl.obolibrary.org/obo/UBERON_0007794secretion of serous gland
http://purl.obolibrary.org/obo/UBERON_0000456secretion of exocrine gland
http://purl.obolibrary.org/obo/UBERON_0007779transudate
http://purl.obolibrary.org/obo/UBERON_0006314bodily fluid
http://purl.obolibrary.org/obo/UBERON_0000463organism substance
HP:0005511Heinz body anemia
HP:0001878Hemolytic anemia
HP:0011895Anemia due to reduced life span of red cells
HP:0005512Impaired neutrophil killing of staphylococci
HP:0410214Hypercapnia in cord blood
HP:0500258Abnormal carbon dioxide level in cord blood
HP:0012416Hypercapnia
HP:0500164Abnormal blood carbon dioxide level
http://purl.obolibrary.org/obo/UBERON_0001092vertebral bone 1
http://purl.obolibrary.org/obo/UBERON_0002412vertebra
http://purl.obolibrary.org/obo/UBERON_0010913vertebral element
HP:0005513Increased megakaryocyte count
HP:0012143Abnormal megakaryocyte morphology
HP:0410213Hypoxemia in cord blood
HP:0500259Abnormal oxygen level in cord blood
HP:0410211Abnormal blood gas level in cord blood
HP:0410210Abnormal cord blood measurement
HP:0030540Unaided visual acuity 0.5 LogMAR
HP:0030541Unaided visual acuity 0.6 LogMAR
HP:0030542Unaided visual acuity 0.7 LogMAR
http://purl.obolibrary.org/obo/UBERON_0003687foramen magnum
http://purl.obolibrary.org/obo/UBERON_0001027sensory nerve
http://purl.obolibrary.org/obo/UBERON_0003689sella turcica
http://purl.obolibrary.org/obo/UBERON_0001028diaphysis of radius
http://purl.obolibrary.org/obo/UBERON_0003681masticatory muscle
http://purl.obolibrary.org/obo/UBERON_0018544trigeminal nerve muscle
http://purl.obolibrary.org/obo/UBERON_0011648jaw muscle
http://purl.obolibrary.org/obo/UBERON_0002376cranial muscle
http://purl.obolibrary.org/obo/UBERON_0003682palatal muscle
http://purl.obolibrary.org/obo/UBERON_0010959craniocervical muscle
http://purl.obolibrary.org/obo/UBERON_0003684abdominal cavity
http://purl.obolibrary.org/obo/UBERON_0003685cranial suture
http://purl.obolibrary.org/obo/UBERON_0009198craniofacial suture
HP:0030547Unaided visual acuity 1.2 LogMAR
HP:0030548Unaided visual acuity 1.3 LogMAR
HP:0030549Unaided visual acuity 2.0 LogMAR
HP:0030543Unaided visual acuity 0.8 LogMAR
HP:0030544Unaided visual acuity 0.9 LogMAR
HP:0030545Unaided visual acuity 1.0 LogMAR
HP:0030546Unaided visual acuity 1.1 LogMAR
HP:0030530Arcuate scotoma
HP:0030531Altitudinal visual field defect
http://purl.obolibrary.org/obo/CHEBI_24436guanidines
http://purl.obolibrary.org/obo/UBERON_0003697abdominal wall
http://purl.obolibrary.org/obo/UBERON_0000060anatomical wall
http://purl.obolibrary.org/obo/UBERON_0003698subtalar joint
http://purl.obolibrary.org/obo/UBERON_0008447intertarsal joint
http://purl.obolibrary.org/obo/UBERON_0003699pubic symphysis
http://purl.obolibrary.org/obo/UBERON_0002216symphysis
http://purl.obolibrary.org/obo/UBERON_0002213cartilaginous joint
http://purl.obolibrary.org/obo/UBERON_0002209fibrous joint
http://purl.obolibrary.org/obo/UBERON_0011134nonsynovial joint
http://purl.obolibrary.org/obo/UBERON_0003690fused sacrum
http://purl.obolibrary.org/obo/UBERON_0005179pelvic region element
http://purl.obolibrary.org/obo/UBERON_0004247bone of dorsum
http://purl.obolibrary.org/obo/UBERON_0008001irregular bone
http://purl.obolibrary.org/obo/UBERON_0006075sacral region of vertebral column
http://purl.obolibrary.org/obo/UBERON_0006077subdivision of vertebral column
http://purl.obolibrary.org/obo/UBERON_0003828abdominal segment bone
http://purl.obolibrary.org/obo/UBERON_0003691epidural space
http://purl.obolibrary.org/obo/UBERON_0010276space in vertebral column
http://purl.obolibrary.org/obo/UBERON_0003692acromioclavicular joint
http://purl.obolibrary.org/obo/UBERON_0016884shoulder joint
http://purl.obolibrary.org/obo/UBERON_0011108synovial joint of pectoral girdle
http://purl.obolibrary.org/obo/UBERON_0008114joint of girdle
http://purl.obolibrary.org/obo/UBERON_0003693retroperitoneal space
http://purl.obolibrary.org/obo/UBERON_0003694atlanto-axial joint
http://purl.obolibrary.org/obo/UBERON_0003695metacarpophalangeal joint
http://purl.obolibrary.org/obo/UBERON_0001489manus joint
http://purl.obolibrary.org/obo/UBERON_0003839forelimb joint
http://purl.obolibrary.org/obo/UBERON_0003696metatarsophalangeal joint
http://purl.obolibrary.org/obo/UBERON_0001487pes joint
http://purl.obolibrary.org/obo/UBERON_0003840hindlimb joint
http://purl.obolibrary.org/obo/UBERON_0003841autopod joint
http://purl.obolibrary.org/obo/UBERON_0011139synovial limb joint
http://purl.obolibrary.org/obo/UBERON_0002217synovial joint
http://purl.obolibrary.org/obo/UBERON_0001033gustatory system
HP:0030536Unaided visual acuity 0.1 LogMAR
HP:0030537Unaided visual acuity 0.2 LogMAR
HP:0030538Unaided visual acuity 0.3 LogMAR
HP:0030539Unaided visual acuity 0.4 LogMAR
HP:0030520Binasal hemianopia
http://purl.obolibrary.org/obo/UBERON_0001046hindgut
http://purl.obolibrary.org/obo/UBERON_0001049neural tube
http://purl.obolibrary.org/obo/UBERON_0016879future central nervous system
http://purl.obolibrary.org/obo/UBERON_0001041foregut
http://purl.obolibrary.org/obo/UBERON_0001040yolk sac
http://purl.obolibrary.org/obo/UBERON_0007499epithelial sac
http://purl.obolibrary.org/obo/UBERON_0003914epithelial tube
http://purl.obolibrary.org/obo/UBERON_0009856sac
HP:0030529Ring scotoma
http://purl.obolibrary.org/obo/UBERON_0001043esophagus
http://purl.obolibrary.org/obo/UBERON_0001042chordate pharynx
http://purl.obolibrary.org/obo/UBERON_0006562pharynx
http://purl.obolibrary.org/obo/UBERON_0001045midgut
http://purl.obolibrary.org/obo/UBERON_0001044saliva-secreting gland
HP:0030525Moderate constriction of peripheral visual field
HP:0030526Severe constriction of peripheral visual field
http://purl.obolibrary.org/obo/PR_P06729T-cell surface antigen CD2 (human)
HP:0030527Very severe constriction of peripheral visual field
HP:0030528Paracentral scotoma
HP:0000575Scotoma
HP:0030521Bitemporal hemianopia
HP:0030522Mild constriction of peripheral visual field
HP:0001133Constriction of peripheral visual field
http://purl.obolibrary.org/obo/PR_P06745glucose-6-phosphate isomerase (mouse)
http://purl.obolibrary.org/obo/PR_P06744glucose-6-phosphate isomerase (human)
http://purl.obolibrary.org/obo/PR_000008175glucose-6-phosphate isomerase
http://purl.obolibrary.org/obo/UBERON_0001052rectum
http://purl.obolibrary.org/obo/UBERON_0004921subdivision of digestive tract
http://purl.obolibrary.org/obo/UBERON_0001051hypopharynx
HP:0030518Congruous homonymous hemianopia
HP:0030519Congruous heteronymous hemianopia
HP:0030514Difficulty adjusting from dark to light
HP:0030515Moderately reduced visual acuity
HP:0030516Homonymous hemianopia
HP:0030517Heteronymous hemianopia
HP:0012377Hemianopia
HP:0030510Combined hamartoma of the retinal pigment epithelium and retina
HP:0009594Retinal hamartoma
HP:0010568Hamartoma of the eye
HP:0100012Neoplasm of the eye
http://purl.obolibrary.org/obo/PR_000009054insulin
http://purl.obolibrary.org/obo/PR_000045358insulin family protein
HP:0030511Bradyopsia
HP:0030513Difficulty adjusting from light to dark
HP:0030512Difficulty adjusting to changes in luminance
HP:0030583Pinhole visual acuity 3.0 LogMAR
HP:0030585Red desaturation
HP:0030586Abnormal Ishihara plate test
HP:0030580Pinhole visual acuity 1.2 LogMAR
HP:0030581Pinhole visual acuity 1.3 LogMAR
HP:0030582Pinhole visual acuity 2.0 LogMAR
http://purl.obolibrary.org/obo/UBERON_0003642pedal digit 3 phalanx
http://purl.obolibrary.org/obo/UBERON_0015033pedal digit 3 phalanx endochondral element
http://purl.obolibrary.org/obo/UBERON_0003644kidney arterial blood vessel
http://purl.obolibrary.org/obo/UBERON_0003645metacarpal bone of digit 1
http://purl.obolibrary.org/obo/UBERON_0015043manual digit 1 metacarpus endochondral element
http://purl.obolibrary.org/obo/UBERON_0003646metacarpal bone of digit 2
http://purl.obolibrary.org/obo/UBERON_0015044manual digit 2 metacarpus endochondral element
http://purl.obolibrary.org/obo/UBERON_0003647metacarpal bone of digit 3
http://purl.obolibrary.org/obo/UBERON_0015045manual digit 3 metacarpus endochondral element
http://purl.obolibrary.org/obo/UBERON_0003648metacarpal bone of digit 4
http://purl.obolibrary.org/obo/UBERON_0015046manual digit 4 metacarpus endochondral element
http://purl.obolibrary.org/obo/UBERON_0003649metacarpal bone of digit 5
http://purl.obolibrary.org/obo/UBERON_0002374metacarpal bone
http://purl.obolibrary.org/obo/UBERON_0015047manual digit 5 metacarpus endochondral element
http://purl.obolibrary.org/obo/UBERON_0015042manual digit metacarpus endochondral element
HP:0005561Abnormality of bone marrow cell morphology
HP:0005562Multiple renal cysts
HP:0000107Renal cyst
HP:0005563Decreased numbers of nephrons
HP:0005564Absence of renal corticomedullary differentiation
http://purl.obolibrary.org/obo/UBERON_0003640pedal digit 1 phalanx
http://purl.obolibrary.org/obo/UBERON_0015031pedal digit 1 phalanx endochondral element
http://purl.obolibrary.org/obo/UBERON_0003641pedal digit 2 phalanx
http://purl.obolibrary.org/obo/UBERON_0001449phalanx of pes
http://purl.obolibrary.org/obo/UBERON_0004248pedal digit bone
http://purl.obolibrary.org/obo/UBERON_0015032pedal digit 2 phalanx endochondral element
http://purl.obolibrary.org/obo/UBERON_0015030pedal digit phalanx endochondral element
HP:0005560Imbalanced hemoglobin synthesis
HP:0005565Reduced renal corticomedullary differentiation
HP:0030587Abnormal Hardy-Rand-Rittler plate test
HP:0030584Color vision test abnormality
HP:0000551Color vision defect
HP:0005567Renal magnesium wasting
HP:0012607Abnormal urine magnesium concentration
HP:0030589Abnormal confrontational visual field test
HP:0030572Pinhole visual acuity 0.4 LogMAR
HP:0030573Pinhole visual acuity 0.5 LogMAR
http://purl.obolibrary.org/obo/CHEBI_61409dihydroxyphenylacetic acid
http://purl.obolibrary.org/obo/CHEBI_25978phenylacetic acids
http://purl.obolibrary.org/obo/CHEBI_35972dihydroxy monocarboxylic acid
HP:0030574Pinhole visual acuity 0.6 LogMAR
HP:0030575Pinhole visual acuity 0.7 LogMAR
HP:0030570Pinhole visual acuity 0.2 LogMAR
HP:0030571Pinhole visual acuity 0.3 LogMAR
http://purl.obolibrary.org/obo/UBERON_0003653metatarsal bone of digit 4
http://purl.obolibrary.org/obo/UBERON_0013584metapodium bone 4
http://purl.obolibrary.org/obo/UBERON_0015040pedal digit 4 metatarsal endochondral element
http://purl.obolibrary.org/obo/UBERON_0003654metatarsal bone of digit 5
http://purl.obolibrary.org/obo/UBERON_0013585metapodium bone 5
http://purl.obolibrary.org/obo/UBERON_0015041pedal digit 5 metatarsal endochondral element
http://purl.obolibrary.org/obo/UBERON_0003656mesopodium bone
http://purl.obolibrary.org/obo/UBERON_0013630short bone
http://purl.obolibrary.org/obo/UBERON_0003657limb joint
http://purl.obolibrary.org/obo/UBERON_0000982skeletal joint
http://purl.obolibrary.org/obo/UBERON_0004905articulation
http://purl.obolibrary.org/obo/UBERON_0003658hip muscle
http://purl.obolibrary.org/obo/UBERON_0003659pedal digit muscle
http://purl.obolibrary.org/obo/UBERON_0001498muscle of pes
HP:0005572Decreased renal tubular phosphate excretion
HP:0005574Non-acidotic proximal tubulopathy
HP:0000114Proximal tubulopathy
HP:0000124Renal tubular dysfunction
HP:0005575Hemolytic-uremic syndrome
http://purl.obolibrary.org/obo/UBERON_0003650metatarsal bone of digit 1
http://purl.obolibrary.org/obo/UBERON_0015037pedal digit 1 metatarsal endochondral element
http://purl.obolibrary.org/obo/UBERON_0013581metapodium bone 1
http://purl.obolibrary.org/obo/UBERON_0003651metatarsal bone of digit 2
http://purl.obolibrary.org/obo/UBERON_0015038pedal digit 2 metatarsal endochondral element
http://purl.obolibrary.org/obo/UBERON_0013582metapodium bone 2
HP:0005571Increased renal tubular phosphate reabsorption
http://purl.obolibrary.org/obo/UBERON_0003652metatarsal bone of digit 3
http://purl.obolibrary.org/obo/UBERON_0013583metapodium bone 3
http://purl.obolibrary.org/obo/UBERON_0015039pedal digit 3 metatarsal endochondral element
http://purl.obolibrary.org/obo/UBERON_0001448metatarsal bone
http://purl.obolibrary.org/obo/UBERON_0015036pedal digit metatarsal endochondral element
http://purl.obolibrary.org/obo/UBERON_0003821metapodium bone
http://purl.obolibrary.org/obo/UBERON_0012359pedal digitopodium bone
http://purl.obolibrary.org/obo/CHEBI_85425glycine transporter inhibitor
HP:0005576Tubulointerstitial fibrosis
HP:0001969Abnormal tubulointerstitial morphology
HP:0032581Abnormal renal insterstitial morphology
HP:0030576Pinhole visual acuity 0.8 LogMAR
HP:0030577Pinhole visual acuity 0.9 LogMAR
HP:0030578Pinhole visual acuity 1.0 LogMAR
HP:0005579Impaired reabsorption of chloride
HP:0011038Abnormality of renal resorption
HP:0011036Abnormality of renal excretion
HP:0012211Abnormal renal physiology
HP:0030579Pinhole visual acuity 1.1 LogMAR
HP:0030561Best corrected visual acuity 0.8 LogMAR
HP:0030562Best corrected visual acuity 0.9 LogMAR
HP:0030563Best corrected visual acuity 1.0 LogMAR
HP:0030564Best corrected visual acuity 1.1 LogMAR
HP:0030560Best corrected visual acuity 0.6 LogMAR
http://purl.obolibrary.org/obo/UBERON_0003664manual digit muscle
http://purl.obolibrary.org/obo/UBERON_0001500muscle of manus
http://purl.obolibrary.org/obo/UBERON_0001003skin epidermis
http://purl.obolibrary.org/obo/UBERON_3000961external integument structure
http://purl.obolibrary.org/obo/UBERON_0007376outer epithelium
http://purl.obolibrary.org/obo/UBERON_0003665post-anal tail muscle
http://purl.obolibrary.org/obo/UBERON_0004518muscle of vertebral column
http://purl.obolibrary.org/obo/UBERON_0003666upper jaw molar
http://purl.obolibrary.org/obo/UBERON_0011593maxillary tooth
http://purl.obolibrary.org/obo/UBERON_0001005respiratory airway
http://purl.obolibrary.org/obo/UBERON_0001004respiratory system
http://purl.obolibrary.org/obo/UBERON_0003667lower jaw molar
http://purl.obolibrary.org/obo/UBERON_0003655molar tooth
http://purl.obolibrary.org/obo/UBERON_0013164molariform tooth
http://purl.obolibrary.org/obo/UBERON_0011594dentary tooth
http://purl.obolibrary.org/obo/UBERON_0001007digestive system
http://purl.obolibrary.org/obo/UBERON_0001009circulatory system
http://purl.obolibrary.org/obo/UBERON_0001008renal system
HP:0005583Tubular basement membrane disintegration
HP:0020131Abnormal tubular basement membrane morphology
HP:0000091Abnormal renal tubule morphology
HP:0005584Renal cell carcinoma
HP:0009726Renal neoplasm
HP:0010786Urinary tract neoplasm
HP:0005585Spotty hyperpigmentation
HP:0005586Hyperpigmentation in sun-exposed areas
http://purl.obolibrary.org/obo/UBERON_0003660eyelid muscle
HP:0005580Duplication of renal pelvis
HP:0010944Abnormal renal pelvis morphology
HP:0000075Renal duplication
http://purl.obolibrary.org/obo/UBERON_0003662forelimb muscle
http://purl.obolibrary.org/obo/UBERON_0014794pectoral appendage muscle
http://purl.obolibrary.org/obo/UBERON_0010891pectoral complex muscle
http://purl.obolibrary.org/obo/UBERON_0003663hindlimb muscle
http://purl.obolibrary.org/obo/UBERON_0003661limb muscle
http://purl.obolibrary.org/obo/UBERON_0014795pelvic appendage muscle
http://purl.obolibrary.org/obo/UBERON_0010890pelvic complex muscle
http://purl.obolibrary.org/obo/UBERON_0014892skeletal muscle organ
http://purl.obolibrary.org/obo/UBERON_0001630muscle organ
http://purl.obolibrary.org/obo/UBERON_0005090muscle structure
http://purl.obolibrary.org/obo/UBERON_0001000vas deferens
HP:0030569Pinhole visual acuity 0.1 LogMAR
HP:0030535Abnormal pinhole visual acuity test
HP:0030565Best corrected visual acuity 1.2 LogMAR
HP:0005587Profuse pigmented skin lesions
HP:0030566Best corrected visual acuity 1.3 LogMAR
HP:0005588Patchy palmoplantar keratoderma
HP:0000982Palmoplantar keratoderma
HP:0030567Best corrected visual acuity 2.0 LogMAR
HP:0030568Best corrected visual acuity 3.0 LogMAR
HP:0030550Unaided visual acuity 3.0 LogMAR
HP:0030533Abnormal unaided visual acuity test
HP:0030551Visual acuity light perception with projection
HP:0030552Visual acuity light perception without projection
HP:0030553Visual acuity no light perception
http://purl.obolibrary.org/obo/UBERON_0003675tooth crown
http://purl.obolibrary.org/obo/UBERON_0001016nervous system
http://purl.obolibrary.org/obo/UBERON_0003677tooth root
http://purl.obolibrary.org/obo/UBERON_0001015musculature
http://purl.obolibrary.org/obo/UBERON_0003679mouth floor
http://purl.obolibrary.org/obo/UBERON_0001444subdivision of head
http://purl.obolibrary.org/obo/UBERON_0001017central nervous system
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=317AFP (human)
HP:0005595Generalized hyperkeratosis
HP:0005597Congenital alopecia totalis
HP:0007418Alopecia totalis
HP:0001596Alopecia
HP:0005590Spotty hypopigmentation
http://purl.obolibrary.org/obo/UBERON_0001010diaphysis of ulna
http://purl.obolibrary.org/obo/UBERON_0004769diaphysis
http://purl.obolibrary.org/obo/UBERON_0003672dentition
http://purl.obolibrary.org/obo/UBERON_0034925anatomical collection
HP:0005592Giant melanosomes in melanocytes
HP:0011125Abnormality of dermal melanosomes
http://purl.obolibrary.org/obo/UBERON_0001012head of radius
http://purl.obolibrary.org/obo/UBERON_0003674cuspid
HP:0005593Macular hypopigmented whorls, streaks, and patches
HP:0001053Hypopigmented skin patches
HP:0030558Best corrected visual acuity 0.5 LogMAR
HP:0030559Best corrected visual acuity 0.7 LogMAR
HP:0005598Facial telangiectasia in butterfly midface distribution
HP:0007380Facial telangiectasia
HP:0100585Telangiectasia of the skin
HP:0001009Telangiectasia
HP:0030554Best corrected visual acuity 0.1 LogMAR
HP:0005599Hypopigmentation of hair
HP:0009887Abnormality of hair pigmentation
HP:0030555Best corrected visual acuity 0.2 LogMAR
HP:0030556Best corrected visual acuity 0.3 LogMAR
HP:0030557Best corrected visual acuity 0.4 LogMAR
HP:0030534Abnormal best corrected visual acuity test
HP:0030532Visual acuity test abnormality
HP:0007663Reduced visual acuity
http://purl.obolibrary.org/obo/UBERON_0003608hindlimb long bone
http://purl.obolibrary.org/obo/UBERON_0003609aorta elastic tissue
http://purl.obolibrary.org/obo/UBERON_0003601neck cartilage
http://purl.obolibrary.org/obo/UBERON_0003604trachea cartilage
http://purl.obolibrary.org/obo/UBERON_0003603lower respiratory tract cartilage
http://purl.obolibrary.org/obo/GO_0019438aromatic compound biosynthetic process
http://purl.obolibrary.org/obo/PR_P16110galectin-3 (mouse)
http://purl.obolibrary.org/obo/PR_000009771galectin-3
http://purl.obolibrary.org/obo/UBERON_0003617trachea elastic tissue
HP:0030496Macular exudate
http://purl.obolibrary.org/obo/UBERON_0003618aorta tunica media
http://purl.obolibrary.org/obo/UBERON_0002522tunica media
http://purl.obolibrary.org/obo/UBERON_0003619aorta tunica intima
HP:0030497Macular cotton wool spot
HP:0031606Retinal cotton wool spot
HP:0030491Choriocapillaris atrophy
HP:0000533Chorioretinal atrophy
HP:0001105Retinal atrophy
HP:0200065Chorioretinal degeneration
HP:0000546Retinal degeneration
HP:0030493Abnormality of foveal pigmentation
HP:0008002Abnormality of macular pigmentation
HP:0030494Macular microaneurysm/hemorrhage
HP:0030495Abnormality morphology of the macular vasculature
HP:0032416Retinal microaneurysm
http://purl.obolibrary.org/obo/UBERON_0003610heart elastic tissue
HP:0030490Exudative vitreoretinopathy
http://purl.obolibrary.org/obo/UBERON_0003614blood vessel elastic tissue
http://purl.obolibrary.org/obo/UBERON_0003613cardiovascular system elastic tissue
http://purl.obolibrary.org/obo/UBERON_0003615lung elastic tissue
http://purl.obolibrary.org/obo/UBERON_0000114lung connective tissue
http://purl.obolibrary.org/obo/UBERON_0003616bronchus elastic tissue
http://purl.obolibrary.org/obo/UBERON_0003611respiratory system elastic tissue
http://purl.obolibrary.org/obo/UBERON_0002521elastic tissue
HP:0030499Macular drusen
HP:0011510Drusen
HP:0030500Yellow/white lesions of the macula
HP:0030484Supernormal dark-adapted bright flash electroretinogram b-wave
HP:0030485Abnormal amplitude of pattern electroretinogram
HP:0030486Abnormal timing of pattern electroretinogram
HP:0030487Abnormal P50/N95 ratio of pattern electroretinogram
HP:0030480Abnormal timing of light-adapted flicker electroretinogram
HP:0030481Abnormal amplitude of light-adapted single flash electroretinogram
HP:0030482Abnormal timing of light-adapted single flash electroretinogram
HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
http://purl.obolibrary.org/obo/UBERON_0003620manual digit 1 phalanx
http://purl.obolibrary.org/obo/UBERON_0015025manual digit 1 phalanx endochondral element
http://purl.obolibrary.org/obo/UBERON_0003622manual digit 2
http://purl.obolibrary.org/obo/UBERON_0003623manual digit 3
http://purl.obolibrary.org/obo/UBERON_0003624manual digit 4
http://purl.obolibrary.org/obo/UBERON_0019232manual digit 2, 3 or 4
http://purl.obolibrary.org/obo/UBERON_0003625manual digit 5
http://purl.obolibrary.org/obo/UBERON_0019231manual digit 1 or 5
http://purl.obolibrary.org/obo/UBERON_0002389manual digit
HP:0030488Abnormal central response of multifocal electroretinogram
HP:0030489Abnormal paracentral response of multifocal electroretinogram
HP:0030468Abnormal multifocal electroretinogram
http://purl.obolibrary.org/obo/UBERON_0003639manual digit 5 phalanx
http://purl.obolibrary.org/obo/UBERON_0015029manual digit 5 phalanx endochondral element
HP:0030474Undetectable dark-adapted electroretinogram
HP:0030475Abnormal timing of dark-adapted dim flash electroretinogram
HP:0030476Abnormal amplitude of dark-adapted dim flash electroretinogram
HP:0030471Abnormal dark-adapted dim flash electroretinogram
HP:0030472Abnormal light-adapted single flash electroretinogram
http://purl.obolibrary.org/obo/UBERON_0003631pedal digit 1
http://purl.obolibrary.org/obo/UBERON_0006048digit 1
http://purl.obolibrary.org/obo/UBERON_0003632pedal digit 2
http://purl.obolibrary.org/obo/UBERON_0006049digit 2
http://purl.obolibrary.org/obo/UBERON_0003633pedal digit 3
http://purl.obolibrary.org/obo/UBERON_0006050digit 3
http://purl.obolibrary.org/obo/UBERON_0003634pedal digit 4
http://purl.obolibrary.org/obo/UBERON_0006051digit 4
http://purl.obolibrary.org/obo/UBERON_0019242pedal digit 2, 3 or 4
http://purl.obolibrary.org/obo/UBERON_0019222digit 2, 3 or 4
http://purl.obolibrary.org/obo/UBERON_0003635pedal digit 5
http://purl.obolibrary.org/obo/UBERON_0019241pedal digit 1 or 5
http://purl.obolibrary.org/obo/UBERON_0001466pedal digit
http://purl.obolibrary.org/obo/UBERON_0006052digit 5
http://purl.obolibrary.org/obo/UBERON_0019221digit 1 or 5
http://purl.obolibrary.org/obo/UBERON_0002544digit
http://purl.obolibrary.org/obo/UBERON_0003636manual digit 2 phalanx
http://purl.obolibrary.org/obo/UBERON_0015026manual digit 2 phalanx endochondral element
http://purl.obolibrary.org/obo/UBERON_0003637manual digit 3 phalanx
http://purl.obolibrary.org/obo/UBERON_0015027manual digit 3 phalanx endochondral element
http://purl.obolibrary.org/obo/UBERON_0003638manual digit 4 phalanx
http://purl.obolibrary.org/obo/UBERON_0015028manual digit 4 phalanx endochondral element
http://purl.obolibrary.org/obo/UBERON_0001436phalanx of manus
http://purl.obolibrary.org/obo/UBERON_0015024manual digit phalanx endochondral element
http://purl.obolibrary.org/obo/UBERON_0004249manual digit bone
http://purl.obolibrary.org/obo/UBERON_0012358manual digitopodium bone
http://purl.obolibrary.org/obo/UBERON_0003607forelimb long bone
HP:0030477Abnormal timing of dark-adapted bright flash electroretinogram
HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram
HP:0030470Abnormal dark-adapted bright flash electroretinogram
HP:0030469Abnormal dark-adapted electroretinogram
HP:0030479Abnormal amplitude of light-adapted flicker electroretinogram
HP:0030473Abnormal light-adapted flicker electroretinogram
HP:0008275Abnormal light-adapted electroretinogram
HP:0030466Abnormal full-field electroretinogram
http://purl.obolibrary.org/obo/CHEBI_24400glycoside
http://purl.obolibrary.org/obo/CHEBI_63161glycosyl compound
http://purl.obolibrary.org/obo/CHEBI_73398indole skeleton
HP:0410197Increased uridine diphosphate glucose-4-epimerase level in red blood cells
HP:0410199Increased CSF urate concentration
HP:0500117Abnormal CSF urate concentration
HP:0410198Decreased uridine diphosphate glucose-4-epimerase level in red blood cells
HP:0410196Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells
HP:0410195Decreased uridine diphosphate glucose-4-epimerase level in plasma
HP:0410194Increased uridine diphosphate glucose-4-epimerase level in plasma
HP:0410193Abnormal uridine diphosphate glucose-4-epimerase level in plasma
HP:0410192Abnormal uridine diphosphate glucose-4-epimerase level
http://purl.obolibrary.org/obo/GO_0044403symbiosis, encompassing mutualism through parasitism
http://purl.obolibrary.org/obo/PR_P16150leukosialin (human)
http://purl.obolibrary.org/obo/PR_000001879leukosialin
HP:0410166Defective interstrand cross-link repair
HP:0410168Abnormality of the back musculature
HP:0410167Abnormal morphology of the chest musculature
HP:0410169Abnormal morphology of the shoulder musculature
http://purl.obolibrary.org/obo/PR_P41159leptin (human)
HP:0410153Increased level of methylsuccinic acid in urine
HP:0410152Eosinophilic microabscess formation in the esophagus
http://purl.obolibrary.org/obo/PR_P41160leptin (mouse)
http://purl.obolibrary.org/obo/PR_000009758leptin
HP:0410154Increased level of myristic acid in serum
HP:0410151Eosinophilic infiltration of the esophagus
HP:0100633Esophagitis
HP:0002031Abnormal esophagus morphology
HP:0410157Increased level of N-acetylneuraminic acid in fibroblasts
HP:0410156Increased level of N-acetylneuraminic acid in urine
HP:0410158Increased level of O-phosphoethanolamine in urine
HP:0410191Increased glucose-6-phosphate dehydrogenase level in leukocytes
HP:0410190Decreased glucose-6-phosphate dehydrogenase level in leukocytes
HP:0410186Increased glucose-6-phosphate dehydrogenase level in tissue
HP:0410188Decreased glucose-6-phosphate dehydrogenase level in red blood cells
HP:0410187Decreased glucose-6-phosphate dehydrogenase level in tissue
HP:0410185Abnormal glucose-6-phosphate dehydrogenase level in tissue
HP:0410182Decreased glucose-6-phosphate dehydrogenase level in dried blood spot
HP:0410181Increased glucose-6-phosphate dehydrogenase level in dried blood spot
HP:0410183Abnormal glucose-6-phosphate dehydrogenase level in leukocytes
HP:0410189Increased glucose-6-phosphate dehydrogenase level in red blood cells
HP:0410184Abnormal glucose-6-phosphate dehydrogenase level in red blood cells
http://purl.obolibrary.org/obo/GO_0007422peripheral nervous system development
HP:0410180Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot
http://purl.obolibrary.org/obo/GO_0007417central nervous system development
HP:0410174Increased troponin T level in blood
HP:0410171Increased cotinine level
HP:0410170Hippocampal atrophy
HP:0007369Atrophy/Degeneration affecting the cerebrum
HP:0012444Brain atrophy
HP:0025100Abnormal morphology of the hippocampus
HP:0007343Abnormal morphology of the limbic system
HP:0410173Increased troponin I level in blood
HP:0500020Abnormal cardiac biomarker test
HP:0410179Decreased glucose-6-phosphate dehydrogenase level in blood
HP:0410178Increased glucose-6-phosphate dehydrogenase level in blood
HP:0410177Abnormal glucose-6-phosphate dehydrogenase level in blood
HP:0410176Abnormal glucose-6-phosphate dehydrogenase level
http://purl.obolibrary.org/obo/CHEBI_48355non-polar solvent
HP:0410362Decreased O-mannosyl glycans on alpha-dystroglycan
HP:0410361Decreased core 1 O-glycan level
HP:0410364Decreased monosialylated core 1 O-glycan level
HP:0005640Abnormal vertebral segmentation and fusion
HP:0410363Increased monosialylated core 1 O-glycan level
HP:0410360Increased core 1 O-glycan level
HP:0410369Increased hepatitis B virus antibody level
HP:0005648Bilateral ulnar hypoplasia
HP:0410366Increased globoside Gb4 level
HP:0410365Increased disialylated core 1 O-glycan level
HP:0012362Abnormal sialylation of O-linked protein glycosylation
HP:0005643Short 3rd toe
HP:0010320Abnormality of the 3rd toe
HP:0410368Increased globoside Gb3 level
HP:0410367Increased hepatitis A virus antibody level
HP:0005645Intervertebral disk calcification
HP:0100593Calcification of cartilage
HP:0005108Abnormality of the intervertebral disk
http://purl.obolibrary.org/obo/GO_0140103catalytic activity, acting on a glycoprotein
http://purl.obolibrary.org/obo/GO_0140096catalytic activity, acting on a protein
http://purl.obolibrary.org/obo/CHEBI_24396glycopeptide
HP:0005650Cutaneous syndactyly between fingers 2 and 5
HP:0010554Cutaneous finger syndactyly
http://purl.obolibrary.org/obo/CHEBI_48360amphiprotic solvent
http://purl.obolibrary.org/obo/CHEBI_48359protophilic solvent
http://purl.obolibrary.org/obo/CHEBI_39142Bronsted base
http://purl.obolibrary.org/obo/CHEBI_15339acceptor
http://purl.obolibrary.org/obo/CHEBI_22695base
http://purl.obolibrary.org/obo/CHEBI_48356protic solvent
http://purl.obolibrary.org/obo/CHEBI_48354polar solvent
http://purl.obolibrary.org/obo/CHEBI_46787solvent
http://purl.obolibrary.org/obo/CHEBI_39141Bronsted acid
http://purl.obolibrary.org/obo/CHEBI_17891donor
http://purl.obolibrary.org/obo/CHEBI_37527acid
HP:0410350Increased urinary fucosylated oligosaccharide
HP:0410353Decreased complex N-glycan level
HP:0005652Cortical sclerosis
HP:0410352Increased complex N-glycan level
HP:0410351Abnormal complex N-glycan level
HP:0410359Abnormal core 1 O-glycan level
HP:0410358Decreased high-mannose N-glycan level
HP:0005659Thoracic kyphoscoliosis
HP:0002943Thoracic scoliosis
http://purl.obolibrary.org/obo/CHEBI_61336C4-dicarboxylate
HP:0005653Moderate generalized osteoporosis
HP:0410355Decreased sialylated N-glycan level
HP:0410354Increased sialylated N-glycan level
HP:0012349Abnormal sialylation of N-linked protein glycosylation
HP:0005655Multiple digital exostoses
HP:0002762Multiple exostoses
HP:0410357Increased high-mannose N-glycan level
HP:0410356Abnormal high-mannose N-glycan level
http://purl.obolibrary.org/obo/CHEBI_48376carbamimidic acid
http://purl.obolibrary.org/obo/CHEBI_64708one-carbon compound
http://purl.obolibrary.org/obo/CHEBI_48379isourea
http://purl.obolibrary.org/obo/CHEBI_48378carboximidic acid
http://purl.obolibrary.org/obo/CHEBI_48377imidic acid
HP:0005661Salmonella osteomyelitis
HP:0410383Abnormal proportion of effector memory CD8-positive, alpha-beta T cells
HP:0003001Glomus jugular tumor
HP:0002864Paraganglioma of head and neck
HP:0002668Paraganglioma
HP:0100634Neuroendocrine neoplasm
http://purl.obolibrary.org/obo/GO_0071971extracellular exosome assembly
http://purl.obolibrary.org/obo/GO_0016050vesicle organization
http://purl.obolibrary.org/obo/GO_0070925organelle assembly
HP:0410381Abnormal proportion of central memory CD4-positive, alpha-beta T cells
HP:0003006Neuroblastoma
HP:0030067Peripheral primitive neuroectodermal neoplasm
HP:0030065Primitive neuroectodermal tumor
HP:0004376Neuroblastic tumor
HP:0100836Malignant neoplasm of the central nervous system
HP:0003009Enhanced neurotoxicity of vincristine
HP:0410388Decreased proportion of central memory CD4-positive, alpha-beta T cells
HP:0410386Decreased proportion of CD4-positive, alpha-beta memory T cells
HP:0003003Colon cancer
HP:0005665Massively thickened long bone cortices
HP:0003002Breast carcinoma
HP:0100013Neoplasm of the breast
HP:0003005Ganglioneuroma
HP:0030450Neuroplasm of the autonomic nervous system
HP:0100007Neoplasm of the peripheral nervous system
HP:0410389Decreased proportion of central memory CD8-positive, alpha-beta T cells
HP:0410385Decreased proportion of CD8-positive, alpha-beta memory T cells
HP:0032183Decreased proportion of memory T cells
HP:0410384Abnormal proportion of central memory CD8-positive, alpha-beta T cells
HP:0410380Abnormal proportion of CD8-positive, alpha-beta memory T cells
HP:0005671Bilateral intracranial calcifications
HP:0410373Abnormal proportion of naive CD4 T cells
HP:0003010Prolonged bleeding time
HP:0410372Increased Tn-antigen level
HP:0410375Increased proportion of naive CD4 T cells
HP:0410374Abnormal proportion of naive CD8 T cells
HP:0410371Increased hepatitis C virus antibody level
HP:0410370Absence of ganglioside GM3
HP:0005679Dupuytren contracture
HP:0410377Decreased proportion of naive CD8 T cells
HP:0005676Rudimentary postaxial polydactyly of hands
HP:0410376Increeased proportion of naive CD8 T cells
HP:0031398Increased proportion of naive T cells
HP:0003013Bulging epiphyses
HP:0410379Abnormal proportion of CD4-positive, alpha-beta memory T cells
HP:0032182Abnormal proportion of memory T cells
http://purl.obolibrary.org/obo/CHEBI_613553-hydroxy carboxylic acid
HP:0005678Anterior atlanto-occipital dislocation
HP:0410378Decreased proportion of naive CD4 T cells
HP:0031397Decreased proportion of naive T cells
HP:0031396Abnormal proportion of naive T cells
HP:0025540Abnormal T cell subset distribution
HP:0011839Abnormal T cell count
HP:0002843Abnormal T cell morphology
HP:0003015Flared metaphysis
HP:0003016Metaphyseal widening
HP:0005606Hyperpigmented nevi and streak
http://purl.obolibrary.org/obo/GO_0044364disruption of cells of other organism
http://purl.obolibrary.org/obo/GO_0035821modulation of process of other organism
http://purl.obolibrary.org/obo/GO_0044419interspecies interaction between organisms
HP:0410329Gluten allergy
HP:0005608Bilobate gallbladder
HP:0012437Abnormal gallbladder morphology
HP:0005609Gallbladder dysfunction
HP:0012438Abnormal gallbladder physiology
HP:0005264Abnormality of the gallbladder
http://purl.obolibrary.org/obo/CHEBI_61360globoside
HP:0030628Foveal subretinal hyporeflective spaces on macular OCT
HP:0410326Feather allergy
HP:0030624Subretinal hyporeflective spaces on macular OCT
HP:0005602Progressive vitiligo
HP:0001045Vitiligo
HP:0005603Numerous congenital melanocytic nevi
HP:0410325House dust mite allergy
HP:0030626Foveal intraretinal hyporeflective spaces on macular OCT
HP:0410328Egg allergy
HP:0030627Foveal hyporeflective spaces on macular OCT
HP:0410327Dairy allergy
HP:0005605Large cafe-au-lait macules with irregular margins
HP:0001034Hypermelanotic macule
HP:0007400Irregular hyperpigmentation
HP:0000953Hyperpigmentation of the skin
HP:0410322Bacteria allergy
HP:0030620Inner retinal layer loss on macular OCT
HP:0030621Foveal inner retinal layer loss on macular OCT
HP:0410321Animal dander allergy
HP:0410320Animal protein allergy
HP:0030622Abnormal foveal pit on macular OCT
HP:0410324Dust mite allergy
HP:0005600Congenital giant melanocytic nevus
HP:0000995Melanocytic nevus
HP:0003764Nevus
HP:0030623Intraretinal hyporeflective spaces on macular OCT
HP:0030625Hyporeflective spaces on macular OCT
HP:0410323Drug allergy
http://purl.obolibrary.org/obo/UBERON_0015593frontal gyrus
http://purl.obolibrary.org/obo/UBERON_0000200gyrus
HP:0005617Bilateral camptodactyly
HP:0410319Alpha-gal allergy
HP:0410318Decreased urinary 3-methylhistidine
HP:0030618Increased OCT-measured foveal thickness
HP:0030619Reduced OCT-measured foveal thickness
HP:0030617Abnormal OCT-measured foveal thickness
HP:0410315Increased urinary 1-methylhistidine
HP:0410314Decreased urinary 1-methylhistidine
HP:0030614Foveal photoreceptor layer loss on macular OCT
HP:0030615Foveal photoreceptor outer segment loss on macular OCT
HP:0410317Increased urinary 3-methylhistidine
HP:0030616Foveal retinal pigment epithelial loss on macular OCT
HP:0030613Abnormal foveal morphology on macular OCT
HP:0005616Accelerated skeletal maturation
HP:0410316Abnormal urinary 3-methylhistidine concentration
HP:0410311Hyposegmentation of neutrophil nuclei in CSF
HP:0030610Photoreceptor outer segment loss on macular OCT
HP:0410313Abnormal urinary 1-methylhistidine concentration
HP:0030611Retinal pigment epithelial loss on macular OCT
HP:0005612Arthrogryposis-like hand anomaly
HP:0410312Hypersegmentation of neutrophil nuclei in CSF
HP:0410310Abnormality of neutrophil morphology in CSF
http://purl.obolibrary.org/obo/GO_0140112extracellular vesicle biogenesis
http://purl.obolibrary.org/obo/GO_0044085cellular component biogenesis
HP:0410340Focal epithelial hyperplasia of oral mucosa
HP:0410342Increased circulating heparan sulfate level
HP:0030607Reduced OCT-measured macular thickness
HP:0030608Increased OCT-measured macular thickness
HP:0030606Abnormal OCT-measured macular thickness
HP:0030609Photoreceptor layer loss on macular OCT
HP:0030612Abnormal retinal morphology on macular OCT
HP:0410348Increased urinary multiantennary sialylated oligosaccharide
HP:0030603Abnormal optical coherence tomography
HP:0410347Increased urinary high-mannose-type oligosaccharide
HP:0005625Osteoporosis of vertebrae
HP:0005626Posterior fusion of lumbosacral vertebrae
HP:0030604Abnormal fundus fluorescein angiography
HP:0005627Type D brachydactyly
HP:0030605Abnormal indocyanine green angiography
HP:0410349Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level
HP:0005620Hypermobility of interphalangeal joints
HP:0410344Shortened O-fucosylated glycan on properdin
HP:0012359Abnormal fucosylation of O-linked protein glycosylation
HP:0012358Abnormal protein O-linked glycosylation
HP:0410343Decreased circulating heparan sulfate level
HP:0410341Abnormal circulating heparan sulfate level
HP:0005621Trapezoidal shaped vertebral bodies
HP:0005622Broad long bones
HP:0410346Increased urinary galactosylated oligosaccharide
HP:0005623Absent ossification of calvaria
HP:0005474Decreased calvarial ossification
HP:0004331Decreased skull ossification
HP:0002703Abnormality of skull ossification
HP:0410345Increased urinary polyhexose
HP:0010471Oligosacchariduria
HP:0410331Nut food product allergy
HP:0410330Meat allergen allergy
HP:0410337Parasite allergy
HP:0410336Venom allergy
HP:0410339Insect bite allergy
HP:0005638Decreased anterioposterior diameter of lumbar vertebral bodies
HP:0008473Narrow anterio-posterior vertebral body diameter
HP:0008479Hypoplastic vertebral bodies
HP:0008417Vertebral hypoplasia
HP:0008515Aplasia/Hypoplasia of the vertebrae
HP:0410338Plant product allergy
http://purl.obolibrary.org/obo/GO_0071944cell periphery
HP:0410333Seafood allergy
HP:0005632Absent forearm
HP:0410332Plant based food allergy
HP:0500093Food allergy
HP:0410335Insect allergy
HP:0410334Fungi allergy
HP:0030660Furcate cord insertion
http://purl.obolibrary.org/obo/CHEBI_24329glutarate
HP:0030661Vitreous snowballs
HP:0030662Vitreous inflammatory cells
HP:0030663Optically empty vitreous
http://purl.obolibrary.org/obo/UBERON_0003565hindbrain dura mater
HP:0003070Elbow ankylosis
HP:0031013Ankylosis
http://purl.obolibrary.org/obo/UBERON_0003568neck connective tissue
http://purl.obolibrary.org/obo/CHEBI_26986threonine
http://purl.obolibrary.org/obo/CHEBI_26167polar amino acid
http://purl.obolibrary.org/obo/CHEBI_382632-amino-3-hydroxybutanoic acid
http://purl.obolibrary.org/obo/CHEBI_36309cyclic tetrapyrrole
http://purl.obolibrary.org/obo/CHEBI_47882cyclic polypyrrole
HP:0003065Patellar hypoplasia
HP:0006498Aplasia/Hypoplasia of the patella
HP:0003067Madelung deformity
HP:0003066Limited knee extension
http://purl.obolibrary.org/obo/UBERON_0003560spinal cord arachnoid mater
http://purl.obolibrary.org/obo/UBERON_0003562midbrain dura mater
http://purl.obolibrary.org/obo/UBERON_0003563telencephalon dura mater
http://purl.obolibrary.org/obo/UBERON_0003564diencephalon dura mater
http://purl.obolibrary.org/obo/UBERON_0003561forebrain dura mater
http://purl.obolibrary.org/obo/UBERON_0002092brain dura mater
http://purl.obolibrary.org/obo/UBERON_0002363dura mater
HP:0030668Periorbital dermoid cyst
HP:0001144Orbital cyst
HP:0000606Abnormality of the periorbital region
HP:0030664Beevor's sign
HP:0009023Abdominal wall muscle weakness
HP:0010991Abnormal morphology of the abdominal musculature
HP:0030665Rubral tremor
HP:0001337Tremor
HP:0003068Madelung-like forearm deformities
HP:0030667Peripheral retinal neovascularization
HP:0030666Retinal neovascularization
HP:0008046Abnormal retinal vascular morphology
http://purl.obolibrary.org/obo/CHEBI_36300tricarboxylic acid dianion
http://purl.obolibrary.org/obo/CHEBI_35753tricarboxylic acid anion
http://purl.obolibrary.org/obo/CHEBI_24318glutamine family amino acid
http://purl.obolibrary.org/obo/CHEBI_15705L-alpha-amino acid
http://purl.obolibrary.org/obo/CHEBI_83813proteinogenic amino acid
HP:0030650Focal
HP:0030651Multifocal
HP:0030652Vitreous haze
HP:0011531Vitritis
http://purl.obolibrary.org/obo/CHEBI_24319EC 6.3.1.2 (glutamate--ammonia ligase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_76823EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_75600EC 6.3.* (C-N bond-forming ligase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_75603EC 6.* (ligase) inhibitor
http://purl.obolibrary.org/obo/CHEBI_23924enzyme inhibitor
http://purl.obolibrary.org/obo/CHEBI_35222inhibitor
http://purl.obolibrary.org/obo/UBERON_0003576hip connective tissue
http://purl.obolibrary.org/obo/UBERON_0003577knee connective tissue
http://purl.obolibrary.org/obo/UBERON_0003569leg connective tissue
HP:0003081Increased urinary potassium
HP:0012598Abnormal urine potassium concentration
http://purl.obolibrary.org/obo/UBERON_0003578pedal digit connective tissue
http://purl.obolibrary.org/obo/UBERON_0003579shoulder connective tissue
HP:0003080Hydroxyprolinuria
HP:0003076Glycosuria
HP:0011016Abnormality of urine glucose concentration
http://purl.obolibrary.org/obo/CHEBI_38958indole alkaloid
http://purl.obolibrary.org/obo/CHEBI_22315alkaloid
HP:0003075Hypoproteinemia
http://purl.obolibrary.org/obo/UBERON_0003571trachea connective tissue
HP:0003072Hypercalcemia
http://purl.obolibrary.org/obo/UBERON_0003572chest connective tissue
HP:0003074Hyperglycemia
http://purl.obolibrary.org/obo/UBERON_0003574elbow connective tissue
http://purl.obolibrary.org/obo/UBERON_0003573arm connective tissue
HP:0003073Hypoalbuminemia
HP:0012116Abnormal albumin level
http://purl.obolibrary.org/obo/UBERON_0003575wrist connective tissue
HP:0030657Umbilical cord hematoma
HP:0030658Marginal umbilical cord insertion
HP:0030659Velamentous cord insertion
HP:0011418Abnormal insertion of umbilical cord
HP:0030654Umbilical cord cyst
HP:0003079Defective DNA repair after ultraviolet radiation damage
HP:0030655Umbilical cord knot
HP:0030656Umbilical vein varix
HP:0010881Abnormality of the umbilical cord
HP:0030640Complete congenital stationary night blindness
HP:0030641Incomplete congenital stationary night blindness
HP:0410308Decreased specific antibody response to infection
HP:0410307Positive stool methadone test
HP:0410309Alpha-aminoadipic aciduria
HP:0003090Hypoplasia of the capital femoral epiphysis
HP:0010585Small epiphyses
HP:0005003Aplasia/Hypoplasia of the capital femoral epiphysis
HP:0010577Absent epiphyses
HP:0003091Trophic limb changes
HP:0010834Trophic changes related to pain
HP:0010832Abnormality of pain sensation
http://purl.obolibrary.org/obo/GO_0032369negative regulation of lipid transport
http://purl.obolibrary.org/obo/GO_1905953negative regulation of lipid localization
HP:0003086Acromesomelia
http://purl.obolibrary.org/obo/GO_0032370positive regulation of lipid transport
http://purl.obolibrary.org/obo/GO_0032368regulation of lipid transport
http://purl.obolibrary.org/obo/GO_1905954positive regulation of lipid localization
http://purl.obolibrary.org/obo/GO_1905952regulation of lipid localization
http://purl.obolibrary.org/obo/UBERON_0003581eyelid connective tissue
HP:0003089Hamstring contractures
http://purl.obolibrary.org/obo/UBERON_0003582nasopharynx connective tissue
HP:0003088Premature osteoarthritis
HP:0002758Osteoarthritis
http://purl.obolibrary.org/obo/UBERON_0003583larynx connective tissue
http://purl.obolibrary.org/obo/UBERON_0003584mammary gland connective tissue
HP:0003085Long fibula
HP:0003084Fractures of the long bones
HP:0002757Recurrent fractures
HP:0030646Peripheral
HP:0410304Complete or near-complete absence of specific antibody response to meningococcus vaccine
HP:0030647Paracentral
HP:0410303Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
HP:0410306Partial absence of specific antibody response to meningococcus vaccine
HP:0030648Midperipheral
HP:0030649Pericentral
HP:0410305Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
HP:0030642Fundus albipunctatus
HP:0012045Retinal flecks
HP:0410300Complete or near-complete absence of specific antibody response to pneumococcus vaccine
HP:0030643Vitelliform-like retinal lesions
HP:0030506Yellow/white lesions of the retina
HP:0030644Blind-spot enlargment
HP:0410302Decreased specific antibody response to protein-conjugated polysaccharide vaccine
HP:0030645Central
HP:0012836Spatial pattern
HP:0012830Position
HP:0012823Clinical modifier
HP:0410301Partial absence of specific antibody response to pneumococcus vaccine
HP:0030630Irregular central macular autofluorescence
http://purl.obolibrary.org/obo/UBERON_0003599tail connective tissue
http://purl.obolibrary.org/obo/CHEBI_48300D-threitol
http://purl.obolibrary.org/obo/CHEBI_26981threitol
http://purl.obolibrary.org/obo/CHEBI_48299butane-1,2,3,4-tetrol
http://purl.obolibrary.org/obo/CHEBI_33729tetritol
HP:0003097Short femur
http://purl.obolibrary.org/obo/UBERON_0003592bronchus connective tissue
http://purl.obolibrary.org/obo/UBERON_0003580lower respiratory tract connective tissue
http://purl.obolibrary.org/obo/UBERON_0003570respiratory system connective tissue
HP:0003099Fibular overgrowth
HP:0030639Congenital stationary night blindness with abnormal fundus
http://purl.obolibrary.org/obo/UBERON_0003594pelvis connective tissue
HP:0003093Limited hip extension
http://purl.obolibrary.org/obo/UBERON_0003596ankle connective tissue
http://purl.obolibrary.org/obo/UBERON_0003595pes connective tissue
http://purl.obolibrary.org/obo/UBERON_0003589hindlimb connective tissue
HP:0003095Septic arthritis
http://purl.obolibrary.org/obo/UBERON_0003597manual digit connective tissue
http://purl.obolibrary.org/obo/UBERON_0015791digit connective tissue
HP:0030635Retinal dystrophy with early macular involvement
HP:0030636Occult macular dystrophy
HP:0007754Macular dystrophy
HP:0030637Congenital stationary cone dysfunction
HP:0030638Congenital stationary night blindness with normal fundus
HP:0007642Congenital stationary night blindness
HP:0000662Nyctalopia
HP:0000556Retinal dystrophy
HP:0030631Hyperautofluorescent macular lesion
HP:0025158Hyperautofluorescent retinal lesion
HP:0030632Hypoautofluorescent macular lesion
HP:0025159Hypoautofluorescent retinal lesion
HP:0030633Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence
http://purl.obolibrary.org/obo/CHEBI_38975methylbenzene
http://purl.obolibrary.org/obo/CHEBI_38976alkylbenzene
http://purl.obolibrary.org/obo/CHEBI_33847monocyclic arene
http://purl.obolibrary.org/obo/CHEBI_33658arene
http://purl.obolibrary.org/obo/CHEBI_33663cyclic hydrocarbon
http://purl.obolibrary.org/obo/CHEBI_22712benzenes
http://purl.obolibrary.org/obo/CHEBI_33836benzenoid aromatic compound
http://purl.obolibrary.org/obo/CHEBI_33598carbocyclic compound
http://purl.obolibrary.org/obo/CHEBI_33597homocyclic compound
HP:0030634Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence
HP:0030629Perifoveal ring of hyperautofluorescence
HP:0030602Abnormal fundus autofluorescence imaging
HP:0030601Abnormal posterior segment imaging
http://purl.obolibrary.org/obo/UBERON_0003529respiratory system lymphatic vessel endothelium
http://purl.obolibrary.org/obo/UBERON_0002042lymphatic vessel endothelium
http://purl.obolibrary.org/obo/GO_0032387negative regulation of intracellular transport
http://purl.obolibrary.org/obo/GO_0051051negative regulation of transport
http://purl.obolibrary.org/obo/CHEBI_73336vulnerary
http://purl.obolibrary.org/obo/UBERON_0003522manual digit blood vessel
http://purl.obolibrary.org/obo/UBERON_0003523manus blood vessel
HP:0040018Clinodactyly of hallux
HP:0010051Deviation of the hallux
http://purl.obolibrary.org/obo/GO_0032388positive regulation of intracellular transport
http://purl.obolibrary.org/obo/GO_0032386regulation of intracellular transport
http://purl.obolibrary.org/obo/GO_0060341regulation of cellular localization
http://purl.obolibrary.org/obo/GO_0051050positive regulation of transport
http://purl.obolibrary.org/obo/GO_0051049regulation of transport
HP:0040016Prominent coccyx
http://purl.obolibrary.org/obo/UBERON_0003526respiratory system capillary
HP:0040017Protruding coccyx
HP:0008519Abnormality of the coccyx
http://purl.obolibrary.org/obo/UBERON_0003527kidney capillary
HP:0040014Increased mitochondrial number
http://purl.obolibrary.org/obo/UBERON_0003528brain gray matter
http://purl.obolibrary.org/obo/UBERON_0002020gray matter
HP:0040015Increased activity of mitochondrial respiratory chain
HP:0011922Abnormal activity of mitochondrial respiratory chain
HP:0003021Metaphyseal cupping
HP:0005682Talocalcaneal synostosis
HP:0003020Enlargement of the wrists
HP:0040013Decreased mitochondrial number
HP:0012102Abnormal mitochondrial number
HP:0003023Bowing of limbs due to multiple fractures
HP:0005684Distal arthrogryposis
HP:0003022Hypoplasia of the ulna
HP:0006495Aplasia/Hypoplasia of the ulna
HP:0005680Tongue-like lumbar vertebral deformities
HP:0008430Anterior beaking of lumbar vertebrae
HP:0004568Beaking of vertebral bodies
HP:0005681Juvenile rheumatoid arthritis
HP:0001370Rheumatoid arthritis
HP:0003029Enlargement of the ankles
http://purl.obolibrary.org/obo/CHEBI_36347nuclear particle
HP:0005686Patchy osteosclerosis
HP:0010658Patchy changes of bone mineral density
HP:0005687Deformed humeral heads
HP:0003887Abnormality of the humeral heads
HP:0010598Abnormality of the proximal humeral epiphysis
HP:0003891Abnormality of the humeral epiphysis
HP:0003871Deformed humerus
HP:0031095Abnormal humerus morphology
HP:0005688Dysplastic distal thumb phalanges with a central hole
HP:0003027Mesomelia
HP:0005689Dermatoglyphic ridges abnormal
HP:0030694Pineal parenchymal cell neoplasm
HP:0010799Pinealoma
HP:0030063Neuroepithelial neoplasm
HP:0030061Neuroectodermal neoplasm
HP:0030060Nervous tissue neoplasm
HP:0030693Supratentorial neoplasm
HP:0030690Gingival cleft
HP:0030691Divergence nystagmus
HP:0000639Nystagmus
HP:0012547Abnormal involuntary eye movements
HP:0007670Abnormal vestibulo-ocular reflex
HP:0001751Vestibular dysfunction
HP:0030692Brain neoplasm
HP:0100006Neoplasm of the central nervous system
HP:0004375Neoplasm of the nervous system
http://purl.obolibrary.org/obo/UBERON_0003533manual digit skin
http://purl.obolibrary.org/obo/UBERON_0001519skin of manus
http://purl.obolibrary.org/obo/UBERON_0003534tail skin
http://purl.obolibrary.org/obo/UBERON_0003535vagus X nerve trunk
http://purl.obolibrary.org/obo/UBERON_0002464nerve trunk
HP:0040025Clinodactyly of the 4th finger
HP:0009273Deviation of the 4th finger
HP:0004188Abnormal 4th finger morphology
HP:0040023Clinodactyly of the thumb
HP:0005694Partial fusion of proximal row of carpal bones
HP:0009702Carpal synostosis
HP:0003031Ulnar bowing
HP:0040024Clinodactyly of the 3rd finger
HP:0009317Deviation of the 3rd finger
HP:0004150Abnormal 3rd finger morphology
HP:0040021Radial deviation of the thumb
HP:0009603Deviation of the thumb
HP:0003034Diaphyseal sclerosis
HP:0006392Increased density of long bones
HP:0005696Postaxial polydactyly type A
HP:0001162Postaxial hand polydactyly
HP:0001161Hand polydactyly
HP:0009997Duplication of phalanx of hand
HP:0004275Duplication of hand bones
HP:0009142Duplication of bones involving the upper extremities
HP:0040022Clinodactyly of the 2nd finger
HP:0009468Deviation of the 2nd finger
HP:0004100Abnormal 2nd finger morphology
http://purl.obolibrary.org/obo/CHEBI_36338lepton
http://purl.obolibrary.org/obo/CHEBI_33233fundamental particle
http://purl.obolibrary.org/obo/CHEBI_36339baryon
http://purl.obolibrary.org/obo/CHEBI_36340fermion
http://purl.obolibrary.org/obo/CHEBI_36344hadron
http://purl.obolibrary.org/obo/CHEBI_36343composite particle
http://purl.obolibrary.org/obo/CHEBI_36342subatomic particle
HP:0040020Radial deviation of the 5th finger
HP:0009466Radial deviation of finger
HP:0009485Radial deviation of the hand or of fingers of the hand
http://purl.obolibrary.org/obo/UBERON_0003530pedal digit skin
http://purl.obolibrary.org/obo/UBERON_0001513skin of pes
http://purl.obolibrary.org/obo/UBERON_0003532hindlimb skin
HP:0005692Joint hyperflexibility
HP:0003038Fibular hypoplasia
HP:0006492Aplasia/Hypoplasia of the fibula
HP:0030682Left ventricular noncompaction
HP:0031192Abnormal morphology of left ventricular trabeculae
HP:0030683Vaginitis
HP:0030685Decreased adiponectin level
HP:0030681Abnormal morphology of myocardial trabeculae
http://purl.obolibrary.org/obo/UBERON_0003544brain white matter
http://purl.obolibrary.org/obo/UBERON_0002316white matter
http://purl.obolibrary.org/obo/CHEBI_24384glycogens
http://purl.obolibrary.org/obo/CHEBI_37163glucan
http://purl.obolibrary.org/obo/CHEBI_37164homopolysaccharide
http://purl.obolibrary.org/obo/CHEBI_18154polysaccharide
HP:0003045Abnormal patella morphology
HP:0003044Shoulder flexion contracture
http://purl.obolibrary.org/obo/UBERON_0003540right lung terminal bronchiole
http://purl.obolibrary.org/obo/UBERON_0003538right lung bronchiole
HP:0003041Humeroradial synostosis
HP:0003938Synostosis involving the elbow
http://purl.obolibrary.org/obo/UBERON_0003541left lung terminal bronchiole
http://purl.obolibrary.org/obo/UBERON_0002187terminal bronchiole
http://purl.obolibrary.org/obo/UBERON_0003539left lung bronchiole
http://purl.obolibrary.org/obo/UBERON_0002186bronchiole
http://purl.obolibrary.org/obo/CHEBI_14216324G7 epitope
HP:0030686Increased adiponectin level
HP:0030684Abnormal adiponectin level
HP:0030688Increased glucagon level
HP:0003049Ulnar deviation of the wrist
HP:0030689Decreased glucagon level
HP:0030687Abnormal glucagon level
HP:0030671Abnormal common tendinous ring morphology
HP:0030672Asteroid hyalosis
HP:0030673Erosive vitreoretinopathy
HP:0007773Vitreoretinopathy
HP:0030674Antenatal onset
HP:0030670Hamartoma of the orbital region
http://purl.obolibrary.org/obo/UBERON_0003554hindbrain pia mater
HP:0040009Hyperparakeratosis
HP:0001036Parakeratosis
http://purl.obolibrary.org/obo/UBERON_0003555spinal cord pia mater
HP:0040007Absent pigmentation of chest
HP:0200098Absent skin pigmentation
http://purl.obolibrary.org/obo/UBERON_0003557midbrain arachnoid mater
HP:0040008Aplasia of facial bones
http://purl.obolibrary.org/obo/CHEBI_24373glycine derivative
http://purl.obolibrary.org/obo/UBERON_0003558diencephalon arachnoid mater
http://purl.obolibrary.org/obo/UBERON_0003556forebrain arachnoid mater
http://purl.obolibrary.org/obo/UBERON_0003559hindbrain arachnoid mater
http://purl.obolibrary.org/obo/UBERON_0002362arachnoid mater
HP:0040006Mortality/Aging
HP:0040004Abnormality of corneal shape
HP:0000481Abnormal cornea morphology
HP:0003053Epiphyseal deformities of tubular bones
http://purl.obolibrary.org/obo/UBERON_0003551midbrain pia mater
http://purl.obolibrary.org/obo/UBERON_0003552telencephalon pia mater
HP:0003051Enlarged metaphyses
http://purl.obolibrary.org/obo/UBERON_0003553diencephalon pia mater
http://purl.obolibrary.org/obo/UBERON_0003550forebrain pia mater
http://purl.obolibrary.org/obo/UBERON_0003549brain pia mater
http://purl.obolibrary.org/obo/UBERON_0002361pia mater
http://purl.obolibrary.org/obo/UBERON_0000391leptomeninx
HP:0030679Ash-leaf spot
HP:0009719Hypomelanotic macule
HP:0020073Hypopigmented macule
HP:0012733Macule
HP:0001010Hypopigmentation of the skin
HP:0001000Abnormality of skin pigmentation
http://purl.obolibrary.org/obo/CHEBI_61313C21-steroid
HP:0030675Contracture of proximal interphalangeal joints of 2nd-5th fingers
HP:0001215Camptodactyly of 2nd-5th fingers
HP:0003057Tetraamelia
HP:0009827Amelia
HP:0030676Satyr ear
HP:0030677Mozart ear
http://purl.obolibrary.org/obo/CHEBI_26907tetrahydrofolic acid
http://purl.obolibrary.org/obo/CHEBI_37445folic acids
http://purl.obolibrary.org/obo/CHEBI_83982L-glutamic acid derivative
http://purl.obolibrary.org/obo/CHEBI_83811proteinogenic amino acid derivative
http://purl.obolibrary.org/obo/CHEBI_24315glutamic acid derivative
http://purl.obolibrary.org/obo/CHEBI_26375pterins
http://purl.obolibrary.org/obo/CHEBI_26373pteridines
http://purl.obolibrary.org/obo/GO_0009991response to extracellular stimulus
http://purl.obolibrary.org/obo/GO_0009605response to external stimulus
http://purl.obolibrary.org/obo/GO_0007338single fertilization
http://purl.obolibrary.org/obo/GO_0009566fertilization
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9454PROM1 (human)
http://purl.obolibrary.org/obo/GO_0010960magnesium ion homeostasis
http://purl.obolibrary.org/obo/GO_0055065metal ion homeostasis
http://purl.obolibrary.org/obo/GO_0072507divalent inorganic cation homeostasis
http://purl.obolibrary.org/obo/GO_0098771inorganic ion homeostasis
http://purl.obolibrary.org/obo/GO_0007320insemination
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9445PRL (human)
http://purl.obolibrary.org/obo/UBERON_0003507arm blood vessel
http://purl.obolibrary.org/obo/UBERON_0003508pedal digit blood vessel
http://purl.obolibrary.org/obo/UBERON_0003521pes blood vessel
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11935CD40LG (human)
http://purl.obolibrary.org/obo/UBERON_0003500corneal blood vessel
http://purl.obolibrary.org/obo/UBERON_0003501retina blood vessel
http://purl.obolibrary.org/obo/UBERON_0003503leg blood vessel
http://purl.obolibrary.org/obo/UBERON_0003505trachea blood vessel
http://purl.obolibrary.org/obo/UBERON_0003506chest blood vessel
HP:0030594Abnormal automated kinetic perimetry test
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11922CD27 (human)
HP:0030596Abnormal Humphrey SITA 30-2 perimetry test
HP:0030597Abnormal Humphrey SITA 24-2 perimetry test
http://purl.obolibrary.org/obo/GO_0019319hexose biosynthetic process
http://purl.obolibrary.org/obo/GO_0046364monosaccharide biosynthetic process
http://purl.obolibrary.org/obo/GO_0016051carbohydrate biosynthetic process
http://purl.obolibrary.org/obo/GO_0019318hexose metabolic process
HP:0030590Abnormal Amsler grid test
HP:0030593Abnormal manual kinetic perimetry test
HP:0030591Abnormal kinetic perimetry test
http://purl.obolibrary.org/obo/UBERON_0003510eyelid blood vessel
http://purl.obolibrary.org/obo/UBERON_0003511iris blood vessel
http://purl.obolibrary.org/obo/UBERON_0003512lung blood vessel
http://purl.obolibrary.org/obo/PR_P04040catalase (human)
http://purl.obolibrary.org/obo/UBERON_0003515forelimb blood vessel
http://purl.obolibrary.org/obo/UBERON_0007300pectoral appendage blood vessel
http://purl.obolibrary.org/obo/GO_0007346regulation of mitotic cell cycle
http://purl.obolibrary.org/obo/UBERON_0003516hindlimb blood vessel
http://purl.obolibrary.org/obo/UBERON_0003514limb blood vessel
http://purl.obolibrary.org/obo/UBERON_0007301appendage blood vessel
http://purl.obolibrary.org/obo/UBERON_0003517kidney blood vessel
HP:0030598Abnormal Humphrey SITA 10-2 perimetry test
HP:0030599Abnormal Estermann grid perimetry test
HP:0030595Abnormal static automated perimetry test
HP:0030592Abnormal static perimetry test
HP:0030588Abnormal visual field test
HP:0001123Visual field defect
HP:0000505Visual impairment
http://purl.obolibrary.org/obo/PR_000048517PR:000048517 located_in GO:0005886
http://purl.obolibrary.org/obo/PR_P13591neural cell adhesion molecule 1 (human)
http://purl.obolibrary.org/obo/PR_000018325neural cell adhesion molecule 1, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001024neural cell adhesion molecule 1
http://purl.obolibrary.org/obo/PR_000001023neural cell adhesion molecule NCAM
http://purl.obolibrary.org/obo/PR_000001022neural cell adhesion molecule
http://purl.obolibrary.org/obo/GO_0007399nervous system development
http://purl.obolibrary.org/obo/GO_0048731system development
http://purl.obolibrary.org/obo/GO_0007389pattern specification process
http://purl.obolibrary.org/obo/PR_P16070CD44 antigen (human)
http://purl.obolibrary.org/obo/PR_000001307CD44 molecule
http://purl.obolibrary.org/obo/GO_0044307dendritic branch
http://purl.obolibrary.org/obo/GO_0030425dendrite
http://purl.obolibrary.org/obo/GO_0043005neuron projection
http://purl.obolibrary.org/obo/GO_0120025plasma membrane bounded cell projection
http://purl.obolibrary.org/obo/GO_0042995cell projection
http://purl.obolibrary.org/obo/GO_0010912positive regulation of isomerase activity
http://purl.obolibrary.org/obo/GO_0010911regulation of isomerase activity
http://purl.obolibrary.org/obo/GO_0046951ketone body biosynthetic process
http://purl.obolibrary.org/obo/GO_1902224ketone body metabolic process
http://purl.obolibrary.org/obo/GO_0006091generation of precursor metabolites and energy
http://purl.obolibrary.org/obo/GO_1901570fatty acid derivative biosynthetic process
http://purl.obolibrary.org/obo/GO_1901568fatty acid derivative metabolic process
http://purl.obolibrary.org/obo/GO_0044283small molecule biosynthetic process
http://purl.obolibrary.org/obo/GO_0046950cellular ketone body metabolic process
http://purl.obolibrary.org/obo/GO_0010907positive regulation of glucose metabolic process
http://purl.obolibrary.org/obo/GO_0062013positive regulation of small molecule metabolic process
http://purl.obolibrary.org/obo/GO_0010676positive regulation of cellular carbohydrate metabolic process
http://purl.obolibrary.org/obo/GO_0045913positive regulation of carbohydrate metabolic process
http://purl.obolibrary.org/obo/GO_0010906regulation of glucose metabolic process
http://purl.obolibrary.org/obo/GO_0062012regulation of small molecule metabolic process
http://purl.obolibrary.org/obo/GO_0010675regulation of cellular carbohydrate metabolic process
http://purl.obolibrary.org/obo/PR_Q02548PR:Q02548 located_in GO:0005654
http://purl.obolibrary.org/obo/PR_000001903paired box protein PAX-5
http://purl.obolibrary.org/obo/PR_P04053DNA nucleotidylexotransferase (human)
http://purl.obolibrary.org/obo/PR_000006611DNA nucleotidylexotransferase
HP:0410290Positive urine norpropoxyphene test
HP:0031840Urine xenobiotic
HP:0410285Positive meconium methadone test
HP:0500098Meconium xenobiotic
HP:0500097Stool xenobiotic
HP:0410284Positive norpropoxyphene blood test
http://purl.obolibrary.org/obo/GO_0046939nucleotide phosphorylation
http://purl.obolibrary.org/obo/GO_0016310phosphorylation
HP:0410287Intrathoracic hemangioma
HP:0410286Positive blood molindone test
HP:0410281Dyspepsia
HP:0002027Abdominal pain
HP:0410280Pediatric onset
HP:0003674Onset
HP:0031797Clinical course
HP:0410283Positive blood acetaminophen test
HP:0410172Blood xenobiotic
HP:0031838Presence of xenobiotic
HP:0410289Hypoamylasemia
HP:0410288Hyperamylasemia
HP:0410282Abnormal circulating amylase level
http://purl.obolibrary.org/obo/CHEBI_3424carnitinium
http://purl.obolibrary.org/obo/CHEBI_35267quaternary ammonium ion
http://purl.obolibrary.org/obo/GO_0010927cellular component assembly involved in morphogenesis
http://purl.obolibrary.org/obo/GO_0048646anatomical structure formation involved in morphogenesis
http://purl.obolibrary.org/obo/GO_0010922positive regulation of phosphatase activity
http://purl.obolibrary.org/obo/GO_0035306positive regulation of dephosphorylation
http://purl.obolibrary.org/obo/GO_0045937positive regulation of phosphate metabolic process
http://purl.obolibrary.org/obo/GO_0010562positive regulation of phosphorus metabolic process
http://purl.obolibrary.org/obo/GO_0031325positive regulation of cellular metabolic process
http://purl.obolibrary.org/obo/GO_0051345positive regulation of hydrolase activity
http://purl.obolibrary.org/obo/GO_0010923negative regulation of phosphatase activity
http://purl.obolibrary.org/obo/GO_0010921regulation of phosphatase activity
http://purl.obolibrary.org/obo/GO_0035305negative regulation of dephosphorylation
http://purl.obolibrary.org/obo/GO_0035303regulation of dephosphorylation
http://purl.obolibrary.org/obo/GO_0045936negative regulation of phosphate metabolic process
http://purl.obolibrary.org/obo/GO_0019220regulation of phosphate metabolic process
http://purl.obolibrary.org/obo/GO_0010563negative regulation of phosphorus metabolic process
http://purl.obolibrary.org/obo/GO_0051174regulation of phosphorus metabolic process
http://purl.obolibrary.org/obo/GO_0051346negative regulation of hydrolase activity
http://purl.obolibrary.org/obo/GO_0051336regulation of hydrolase activity
HP:0410274Paraspinal hemangioma
HP:0410273Retropharyngeal hemangioma
HP:0410276Supraumbilical raphe
HP:0410275Lumbosacral hemangioma
HP:0410270Esophageal hemangioma
HP:0410272Vulvar hemangioma
HP:0410271Laryngeal hemangioma
HP:0410278Pituitary gland cyst
HP:0010576Intracranial cystic lesion
HP:0410277Sternal pit
HP:0000766Abnormality of the sternum
HP:0410279Atrophic pituitary gland
HP:0012506Small pituitary gland
HP:0012504Abnormal size of pituitary gland
http://purl.obolibrary.org/obo/GO_0009968negative regulation of signal transduction
http://purl.obolibrary.org/obo/GO_0010648negative regulation of cell communication
http://purl.obolibrary.org/obo/GO_0023057negative regulation of signaling
http://purl.obolibrary.org/obo/GO_0010940positive regulation of necrotic cell death
http://purl.obolibrary.org/obo/GO_0010942positive regulation of cell death
http://purl.obolibrary.org/obo/GO_0010939regulation of necrotic cell death
http://purl.obolibrary.org/obo/GO_0010941regulation of cell death
http://purl.obolibrary.org/obo/GO_0010948negative regulation of cell cycle process
http://purl.obolibrary.org/obo/GO_0045786negative regulation of cell cycle
http://purl.obolibrary.org/obo/GO_0010564regulation of cell cycle process
http://purl.obolibrary.org/obo/GO_0051726regulation of cell cycle
http://purl.obolibrary.org/obo/GO_0009967positive regulation of signal transduction
http://purl.obolibrary.org/obo/GO_0009966regulation of signal transduction
http://purl.obolibrary.org/obo/GO_0010647positive regulation of cell communication
http://purl.obolibrary.org/obo/GO_0010646regulation of cell communication
http://purl.obolibrary.org/obo/GO_0023056positive regulation of signaling
http://purl.obolibrary.org/obo/GO_0023051regulation of signaling
HP:0410296Complete or near-complete absence of specific antibody response to hepatitis B vaccine
HP:0410295Complete or near-complete absence of specific antibody response to tetanus vaccine
HP:0410298Partial absence of specific antibody response to hepatitis B vaccine
HP:0410297Partial absence of specific antibody response to tetanus vaccine
HP:0410291Negativism
HP:0410294Decreased specific antibody response to protein vaccine
HP:0410293Absent isohemagglutinin level
HP:0410292Abnormal isohemagglutinin level
HP:0410299Decreased specific antibody response to polysaccharide vaccine
HP:0032140Decreased specific antibody response to vaccination
HP:0012475Decreased circulating level of specific antibody
HP:0031404Impaired antigen-specific response
HP:0002721Immunodeficiency
HP:0030709Myelocystocele
HP:0410000Abnormality of vomer
HP:0030706Ranula
HP:0010286Abnormal salivary gland morphology
HP:0030707Unilateral lung agenesis
HP:0030708Myeloschisis
HP:0002475Myelomeningocele
HP:00057671-2 toe complete cutaneous syndactyly
HP:0003106Subperiosteal bone resorption
HP:00057682-4 toe cutaneous syndactyly
HP:0410006Abnormality of ophthalmic artery
HP:3000062Abnormal internal carotid artery morphology
HP:0005344Abnormal carotid artery morphology
HP:0003105Protuberances at ends of long bones
HP:0005769Fifth finger distal phalanx clinodactyly
HP:0004209Clinodactyly of the 5th finger
HP:0040019Finger clinodactyly
HP:0009179Deviation of the 5th finger
HP:0004097Deviation of finger
HP:0009484Deviation of the hand or of fingers of the hand
HP:0004225Abnormality of the distal phalanx of the 5th finger
HP:0003108Hyperglycinuria
HP:0003102Increased carrying angle
HP:0410003Cleft maxillary alveolus
HP:0010758Abnormality of the premaxilla
HP:0000326Abnormality of the maxilla
HP:0005764Polyarticular arthritis
HP:0005195Polyarticular arthropathy
HP:0003040Arthropathy
HP:0005765Sacral meningocele
HP:0005766Disproportionate shortening of the tibia
http://purl.obolibrary.org/obo/GO_0042092type 2 immune response
http://purl.obolibrary.org/obo/GO_0042098T cell proliferation
HP:0005773Short forearm
HP:0009821Forearm undergrowth
HP:0006503Aplasia/hypoplasia involving forearm bones
http://purl.obolibrary.org/obo/CHEBI_61697fatty acid derivative
HP:0003116Abnormal echocardiogram
HP:0003118Increased circulating cortisol level
HP:0002717Adrenal overactivity
HP:0011733Abnormality of adrenal physiology
HP:0000834Abnormality of the adrenal glands
HP:0410175Hyperketonemia
http://purl.obolibrary.org/obo/CHEBI_58048L-asparagine zwitterion
HP:0003113Hypochloremia
HP:0011422Abnormal blood chloride concentration
HP:0005775Multiple skeletal anomalies
HP:0005776Carpal bone malsegmentation
HP:0001191Abnormality of the carpal bones
HP:0003019Abnormality of the wrist
http://purl.obolibrary.org/obo/PR_Q14246adhesion G protein-coupled receptor E1 (human)
http://purl.obolibrary.org/obo/PR_000001813adhesion G protein-coupled receptor E1
http://purl.obolibrary.org/obo/PR_000001087adhesion G-protein coupled receptor
HP:0005781Contractures of the large joints
HP:0410021Musty odor
HP:0410023Abnormal distribution of cell junction proteins in buccal mucosal cells
HP:0031476Abnormal buccal mucosa cell morphology
HP:3000019Abnormality of buccal mucosa
HP:0410022Vaginal fish odor
HP:0410020Fish odor
HP:0500001Body odor
HP:0005780Absent fourth finger distal interphalangeal crease
HP:0001032Absent distal interphalangeal creases
HP:0006109Absent phalangeal crease
HP:0006143Abnormal finger flexion creases
HP:0003128Lactic acidosis
HP:0005789Generalized osteosclerosis
HP:0410028Recurrent oral herpes
HP:0005353Recurrent herpes
HP:0004429Recurrent viral infections
HP:0003127Hypocalciuria
HP:0011280Abnormality of urine calcium concentration
HP:0003124Hypercholesterolemia
HP:0005787Lumbar platyspondyly
HP:0003126Low-molecular-weight proteinuria
HP:0000093Proteinuria
HP:0020129Abnormal urine protein level
HP:0410027Alveolar bone loss around teeth
HP:0005788Abnormal cervical myelogram
HP:0002318Cervical myelopathy
HP:0002196Myelopathy
HP:0003125Reduced factor VIII activity
HP:0410026Abnormality of the periodontium
http://purl.obolibrary.org/obo/GO_0042073intraciliary transport
http://purl.obolibrary.org/obo/GO_0031503protein-containing complex localization
http://purl.obolibrary.org/obo/GO_0098840protein transport along microtubule
http://purl.obolibrary.org/obo/GO_0099118microtubule-based protein transport
http://purl.obolibrary.org/obo/GO_0010970transport along microtubule
http://purl.obolibrary.org/obo/GO_0030705cytoskeleton-dependent intracellular transport
http://purl.obolibrary.org/obo/GO_0099111microtubule-based transport
http://purl.obolibrary.org/obo/GO_0007018microtubule-based movement
http://purl.obolibrary.org/obo/GO_0006928movement of cell or subcellular component
http://purl.obolibrary.org/obo/GO_0007017microtubule-based process
HP:0005792Short humerus
HP:0006507Aplasia/hypoplasia of the humerus
HP:0003131Cystinuria
HP:0410010Abnormality of somatic nerve plexus
HP:0410009Abnormality of the somatic nervous system
HP:0005793Shortening of all distal phalanges of the toes
HP:0001857Short distal phalanx of toe
HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes
HP:0010760Absent toe
HP:0010173Aplasia/Hypoplasia of the phalanges of the toes
HP:0010182Abnormality of the distal phalanges of the toes
HP:0005035Shortening of all phalanges of the toes
HP:0001831Short toe
HP:0001991Aplasia/Hypoplasia of toe
HP:0010161Abnormality of the phalanges of the toes
HP:0003133Abnormality of the spinocerebellar tracts
HP:0410012Abnormal mouth floor morphology
HP:0410011Abnormality of masticatory muscle
HP:0045037Abnormality of jaw muscles
HP:0000301Abnormality of facial musculature
HP:0005790Short mandibular condyles
HP:0003778Short mandibular rami
HP:0000347Micrognathia
HP:0009118Aplasia/Hypoplasia of the mandible
HP:0009116Aplasia/Hypoplasia involving bones of the skull
HP:0002692Hypoplastic facial bones
HP:3000003Abnormal mandibular ramus morphology
HP:3000077Abnormal mandible condylar process morphology
HP:0005791Cortical thickening of long bone diaphyses
HP:0000935Thickened cortex of long bones
HP:0100039Thickened cortex of bones
HP:0410018Recurrent ear infections
HP:0003139Panhypogammaglobulinemia
HP:0003138Increased blood urea nitrogen
HP:0031970Abnormal blood urea nitrogen concentration
HP:0410017Otitis externa
HP:0410019Epigastric pain
HP:0410013Abnormality of the submandibular region
HP:0005798Posterior radial head dislocation
HP:0003137Prolinuria
HP:0410016Abnormality of cranial ganglion
HP:0410015Abnormality of ganglion of peripheral nervous system
HP:0410014Abnormality of ganglion
http://purl.obolibrary.org/obo/GO_0042060wound healing
http://purl.obolibrary.org/obo/GO_0009611response to wounding
http://purl.obolibrary.org/obo/GO_0006950response to stress
HP:0030740Anomalous muscle bundle of the right ventricle
HP:0001707Abnormal right ventricle morphology
http://purl.obolibrary.org/obo/GO_0042065glial cell growth
http://purl.obolibrary.org/obo/GO_0048588developmental cell growth
http://purl.obolibrary.org/obo/GO_0048589developmental growth
http://purl.obolibrary.org/obo/GO_0016049cell growth
http://purl.obolibrary.org/obo/GO_0040007growth
http://purl.obolibrary.org/obo/GO_0042063gliogenesis
http://purl.obolibrary.org/obo/GO_0022008neurogenesis
http://purl.obolibrary.org/obo/UBERON_0003488abdominal mammary gland
http://purl.obolibrary.org/obo/UBERON_0001911mammary gland
http://purl.obolibrary.org/obo/UBERON_0005172abdomen element
http://purl.obolibrary.org/obo/UBERON_0005173abdominal segment element
http://purl.obolibrary.org/obo/UBERON_0003489respiratory system capillary endothelium
http://purl.obolibrary.org/obo/UBERON_0004702respiratory system blood vessel endothelium
http://purl.obolibrary.org/obo/UBERON_0001915endothelium of capillary
http://purl.obolibrary.org/obo/UBERON_0003480vein of clitoris
http://purl.obolibrary.org/obo/UBERON_0003481tail vein
http://purl.obolibrary.org/obo/UBERON_0003482vein of trabecular bone
http://purl.obolibrary.org/obo/UBERON_0003483thymus lymphoid tissue
http://purl.obolibrary.org/obo/UBERON_0001744lymphoid tissue
http://purl.obolibrary.org/obo/UBERON_0034769lymphomyeloid tissue
http://purl.obolibrary.org/obo/UBERON_0015757heterogeneous tissue
HP:0030749Grade II preterm intraventricular hemorrhage
http://www.informatics.jax.org/marker/MGI:97004Mme (mouse)
http://purl.obolibrary.org/obo/UBERON_0003484eye sebaceous gland
http://purl.obolibrary.org/obo/UBERON_0003605eye skin gland
http://purl.obolibrary.org/obo/UBERON_0004859eye gland
http://purl.obolibrary.org/obo/UBERON_0003485vagina sebaceous gland
http://purl.obolibrary.org/obo/UBERON_0005398female reproductive gland
http://purl.obolibrary.org/obo/UBERON_0003937reproductive gland
http://purl.obolibrary.org/obo/UBERON_0003487skin sebaceous gland
HP:0005723Shoe-shaped sella turcica
HP:0002681Deformed sella turcica
HP:0030745Dilatation of the ductus arteriosus
HP:0011603Congenital malformation of the great arteries
HP:0002617Dilatation
HP:0005725Nonopposable triphalangeal thumb
HP:0030748Grade I preterm intraventricular hemorrhage
HP:0005726Thumbs hypoplastic with bulbous tips
HP:0009778Short thumb
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0030741Mediastinal teratoma
HP:0005720Shortening of all metacarpals
HP:0010049Short metacarpal
HP:0030742Glial remnants posterior to lens
HP:0030743Glial remnants anterior to the optic disc
HP:0005722Hyperextensible thumb
HP:0005639Hyperextensible hand joints
HP:0001382Joint hypermobility
HP:0030744Hyaloid vascular remnant and retrolental mass
HP:0007968Remnants of the hyaloid vascular system
HP:3000036Abnormality of head blood vessel
HP:0005739Posterior subluxation of radial head
HP:0003048Radial head subluxation
http://purl.obolibrary.org/obo/UBERON_0015474axilla skin
http://purl.obolibrary.org/obo/UBERON_0015477axillary fat pad
http://purl.obolibrary.org/obo/UBERON_0015476nose skin
http://purl.obolibrary.org/obo/UBERON_1000021skin of face
http://purl.obolibrary.org/obo/UBERON_0001084skin of head
http://purl.obolibrary.org/obo/UBERON_0012180head or neck skin
http://purl.obolibrary.org/obo/UBERON_0003499brain blood vessel
http://purl.obolibrary.org/obo/UBERON_0003494respiratory system venule
http://purl.obolibrary.org/obo/UBERON_0001979venule
HP:0030738Altman type II sacrococcygeal teratoma
http://purl.obolibrary.org/obo/UBERON_0003495respiratory system arteriole
http://purl.obolibrary.org/obo/UBERON_0001980arteriole
HP:0030739Altman type III sacrococcygeal teratoma
http://purl.obolibrary.org/obo/UBERON_0003498heart blood vessel
http://purl.obolibrary.org/obo/UBERON_0003834thoracic segment blood vessel
http://purl.obolibrary.org/obo/UBERON_0015479scrotum skin
HP:0030735Ureterovesical junction obstruction
HP:0006000Ureteral obstruction
HP:0025634Abnormal ureter physiology
HP:0005736Short tibia
HP:0005772Aplasia/Hypoplasia of the tibia
HP:0030737Altman type I sacrococcygeal teratoma
HP:0030736Sacrococcygeal teratoma
HP:0030730Parietal meningocele
HP:0005731Cortical irregularity
HP:0030731Carcinoma
HP:0031492Epithelial neoplasm
HP:0030732Dysplastic tricuspid valve
HP:0030733Vesicoallantoic abdominal wall defect
HP:0005733Spinal stenosis with reduced interpedicular distance
http://purl.obolibrary.org/obo/UBERON_0015482right hepatic artery
http://purl.obolibrary.org/obo/UBERON_0015481left hepatic artery
http://purl.obolibrary.org/obo/UBERON_0015796liver blood vessel
http://purl.obolibrary.org/obo/UBERON_0003497abdomen blood vessel
http://purl.obolibrary.org/obo/UBERON_0001193hepatic artery
http://purl.obolibrary.org/obo/UBERON_0015485choledocho-duodenal junction
HP:0030727Intracranial neurenteric cyst
HP:0030728Meromelia
HP:0030729Frontoethmoidal meningocele
HP:0005745Congenital foot contractures
HP:0030723Congenital megalourethra
HP:0005746Osteosclerosis of the base of the skull
HP:0005464Craniofacial osteosclerosis
HP:0005747Easily subluxated first metacarpophalangeal joints
HP:0004294Subluxation of metacarpal phalangeal joints
HP:0030726Spinal neurenteric cyst
HP:0030725Neurenteric cyst
HP:0030724Central nervous system cyst
HP:0030720Subchorionic septal cyst
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0030721Tetraphocomelia
HP:0009829Phocomelia
HP:0030722Ectopic liver
HP:0030716Acrania
HP:0030717Meconium peritonitis
HP:0002586Peritonitis
HP:0045073Serositis
HP:0030718Right atrial enlargement
HP:0025580Abnormal right atrium morphology
HP:0005120Abnormal cardiac atrium morphology
HP:0030719Unguarded tricuspid valve
HP:0011662Tricuspid atresia
HP:0001702Abnormal tricuspid valve morphology
HP:0006705Abnormal atrioventricular valve morphology
HP:0001654Abnormal heart valve morphology
HP:0005756Neonatal epiphyseal stippling
HP:0010655Epiphyseal stippling
HP:0010656Abnormal epiphyseal ossification
HP:0030712Uterine synechiae
HP:0030713Vein of Galen aneurysmal malformation
HP:0012480Abnormality of cerebral veins
HP:0005758Basilar impression
HP:0030714Subchorionic thrombohematoma
HP:0005759Small flat posterior fossa
HP:0040011Flat posterior fossa
HP:0040010Small posterior fossa
HP:0000932Abnormality of the posterior cranial fossa
HP:0030715Bronchial atresia
HP:0025426Abnormal bronchus morphology
HP:0005607Abnormal tracheobronchial morphology
HP:0005752Flattened moderately deformed vertebrae
HP:0030710Lipomeningocele
HP:0002435Meningocele
HP:0010651Abnormal meningeal morphology
HP:0030711Hydrocolpos
HP:0030781Increased circulating free fatty acid level
HP:0030783Increased serum interleukin-6
HP:0030782Abnormal serum interleukin level
HP:0011112Abnormality of serum cytokine level
HP:0011111Abnormality of immune serum protein physiology
HP:0030784Anomia
HP:0002167Neurological speech impairment
HP:0011446Abnormality of higher mental function
http://purl.obolibrary.org/obo/UBERON_0015420ureteral valve
http://purl.obolibrary.org/obo/UBERON_0003978valve
HP:0030780Abnormality of the protein C anticoagulant pathway
http://purl.obolibrary.org/obo/UBERON_0003444pelvis nerve
http://purl.obolibrary.org/obo/CHEBI_24684hydroxybutyric acid
http://purl.obolibrary.org/obo/UBERON_0003446ankle nerve
HP:0003191Cleft ala nasi
HP:0000429Abnormality of the nasal alae
HP:0010938Abnormality of the external nose
http://purl.obolibrary.org/obo/UBERON_0003447digit nerve of manus
http://purl.obolibrary.org/obo/UBERON_0003449tail intervertebral disc
http://purl.obolibrary.org/obo/UBERON_0001066intervertebral disk
http://purl.obolibrary.org/obo/UBERON_0011135intervertebral cartilage
HP:0003186Inverted nipples
HP:0003185Short greater sciatic notch
HP:0003187Breast hypoplasia
HP:0010311Aplasia/Hypoplasia of the breasts
HP:0003182Shallow acetabular fossae
HP:0003184Decreased hip abduction
http://purl.obolibrary.org/obo/UBERON_0003443thoracic cavity nerve
HP:0003183Wide pubic symphysis
HP:0003037Enlarged joints
HP:0030789Excessive cerumen
HP:0030785Mediastinal cystic lymphangioma
HP:0100764Lymphangioma
HP:0010566Hamartoma
HP:0030786Photopsia
HP:0003189Long nose
http://purl.obolibrary.org/obo/CHEBI_83056Daphnia magna metabolite
HP:0030788Impacted cerumen
HP:0030770Craniorachischisis
HP:0030771Mallet finger
HP:0030772Proximal femoral focal deficiency
HP:0005613Aplasia/hypoplasia of the femur
HP:0030773Internuclear ophthalmoplegia
HP:0000602Ophthalmoplegia
HP:0000597Ophthalmoparesis
HP:0000496Abnormality of eye movement
HP:0008049Abnormality of the extraocular muscles
HP:0040108Morphological abnormality of the anterior semicircular canal
http://purl.obolibrary.org/obo/UBERON_0003456respiratory system lymphatic vessel
http://purl.obolibrary.org/obo/UBERON_0001473lymphatic vessel
HP:0040109Morphological abnormality of the utricle
http://purl.obolibrary.org/obo/GO_0030054cell junction
HP:0040106Morphological abnormality of the lateral semicircular canal
http://purl.obolibrary.org/obo/UBERON_0003458neck bone
HP:0040107Morphological abnormality of the posterior semicircular canal
http://purl.obolibrary.org/obo/UBERON_0003459chest bone
http://purl.obolibrary.org/obo/UBERON_0005175chest organ
http://purl.obolibrary.org/obo/UBERON_0003827thoracic segment bone
HP:0040104Osseous stenosis of the external auditory canal
HP:0040102Osseous atresia of the external auditory canal
HP:0040103Cutaneous stenosis of the external auditory canal
HP:0000402Stenosis of the external auditory canal
HP:0040100Abnormality of the vestibular window
HP:0003196Short nose
HP:0009924Aplasia/Hypoplasia involving the nose
HP:0005105Abnormal nasal morphology
HP:0040101Cutaneous atresia of the external auditory canal
HP:0000413Atresia of the external auditory canal
HP:0003199Decreased muscle mass
http://purl.obolibrary.org/obo/UBERON_0003450upper jaw incisor
http://purl.obolibrary.org/obo/UBERON_2001626premaxillary tooth
HP:0003193Allergic rhinitis
HP:0012393Allergy
HP:0003194Short nasal bridge
HP:0000422Abnormality of the nasal bridge
HP:0010939Abnormality of the nasal bone
HP:0010937Abnormality of the nasal skeleton
HP:0030778Modic type III vertebral endplate changes
HP:0030779Ethmocephaly
HP:0001360Holoprosencephaly
HP:0030774Mitochondrial swelling
HP:0012087Abnormal mitochondrial shape
HP:0008322Abnormal mitochondrial morphology
HP:0030776Modic type I vertebral endplate changes
HP:0030777Modic type II vertebral endplate changes
HP:0030775Modic type vertebral endplate changes
HP:0030760Renal fibrosis
HP:0030762Mesangiolysis
HP:0001966Mesangial abnormality
http://purl.obolibrary.org/obo/UBERON_0003466forelimb zeugopod bone
http://purl.obolibrary.org/obo/UBERON_0003468ureteric segment of renal artery
http://purl.obolibrary.org/obo/UBERON_0003460arm bone
http://purl.obolibrary.org/obo/UBERON_0003461shoulder bone
http://purl.obolibrary.org/obo/UBERON_0003462facial bone
http://purl.obolibrary.org/obo/UBERON_0003457head bone
http://purl.obolibrary.org/obo/UBERON_0007914bone of craniocervical region
http://purl.obolibrary.org/obo/UBERON_0003463trunk bone
http://purl.obolibrary.org/obo/GO_0030073insulin secretion
http://purl.obolibrary.org/obo/GO_0009306protein secretion
http://purl.obolibrary.org/obo/GO_0035592establishment of protein localization to extracellular region
http://purl.obolibrary.org/obo/GO_0071692protein localization to extracellular region
HP:0030767Epignathus
HP:0030769Exencephaly
http://purl.obolibrary.org/obo/CHEBI_83038Daphnia galeata metabolite
http://purl.obolibrary.org/obo/CHEBI_83057Daphnia metabolite
http://purl.obolibrary.org/obo/CHEBI_83039crustacean metabolite
http://purl.obolibrary.org/obo/CHEBI_75767animal metabolite
http://purl.obolibrary.org/obo/CHEBI_75763eukaryotic metabolite
http://purl.obolibrary.org/obo/CHEBI_25212metabolite
http://purl.obolibrary.org/obo/CHEBI_52206biochemical role
HP:0030763Amniotic Sheet
HP:0011409Abnormality of placental membranes
HP:0100767Abnormality of the placenta
HP:0001194Abnormalities of placenta or umbilical cord
HP:0030764Ochronosis
HP:0030765Sleep terror
HP:0025235Non-rapid eye movement parasomnia
HP:0025234Parasomnia
HP:0002360Sleep disturbance
HP:0030766Ear pain
HP:0030750Grade III preterm intraventricular hemorrhage
HP:0030751Grade IV preterm intraventricular hemorrhage
HP:0030747Preterm intraventricular hemorrhage
HP:0030746Intraventricular hemorrhage
HP:0002170Intracranial hemorrhage
HP:0100659Abnormality of the cerebral vasculature
http://purl.obolibrary.org/obo/UBERON_0015453subcutaneous lymph node
http://purl.obolibrary.org/obo/UBERON_0015454pancreatic fat pad
http://purl.obolibrary.org/obo/UBERON_0003477vein of upper lip
http://purl.obolibrary.org/obo/UBERON_0003478vein of lower lip
http://purl.obolibrary.org/obo/UBERON_0013136vein of lip
http://purl.obolibrary.org/obo/UBERON_0003502neck blood vessel
http://purl.obolibrary.org/obo/UBERON_0009141craniocervical region vein
http://purl.obolibrary.org/obo/UBERON_0013140systemic vein
http://purl.obolibrary.org/obo/UBERON_0003479thoracic cavity vein
http://purl.obolibrary.org/obo/UBERON_0003470artery of upper lip
http://purl.obolibrary.org/obo/UBERON_0003471artery of lower lip
http://purl.obolibrary.org/obo/UBERON_0009657artery of lip
http://purl.obolibrary.org/obo/UBERON_0003472cerebellar artery
http://purl.obolibrary.org/obo/UBERON_0003473thoracic cavity artery
http://purl.obolibrary.org/obo/UBERON_0003474meningeal artery
http://purl.obolibrary.org/obo/UBERON_0003475ureteric vein
http://purl.obolibrary.org/obo/UBERON_0003520pelvis blood vessel
http://purl.obolibrary.org/obo/UBERON_0003835abdominal segment blood vessel
http://purl.obolibrary.org/obo/UBERON_0003476respiratory system venous blood vessel
http://purl.obolibrary.org/obo/UBERON_0001638vein
http://purl.obolibrary.org/obo/UBERON_0003920venous blood vessel
HP:0030756Erythrodontia
HP:0011073Abnormality of dental color
HP:0030758Periapical tooth abscess
HP:0030757Tooth abscess
HP:0025615Abscess
HP:0011061Abnormality of dental structure
HP:0030759Adipocyte hypertrophy
http://purl.obolibrary.org/obo/UBERON_0015458mediastinal fat pad
http://purl.obolibrary.org/obo/UBERON_0003593thoracic cavity connective tissue
HP:0030752Dacryocystocele
HP:0000579Nasolacrimal duct obstruction
HP:0011481Abnormal lacrimal duct morphology
HP:0000614Abnormal nasolacrimal system morphology
HP:0030753Intrauterine fetal demise of one twin after midgestation
HP:0030754Allantoic cyst
HP:0010478Abnormality of the urachus
HP:0025487Abnormality of bladder morphology
HP:0000014Abnormality of the bladder
HP:0030755Craniofacial teratoma
HP:0009792Teratoma
HP:0002898Embryonal neoplasm
HP:0011792Neoplasm by histology
HP:0100728Germ cell neoplasia
http://purl.obolibrary.org/obo/UBERON_0003409gland of tongue
http://purl.obolibrary.org/obo/UBERON_0010047oral gland
http://www.informatics.jax.org/marker/MGI:105057Cdh5 (mouse)
http://purl.obolibrary.org/obo/PR_000046275PR:000046275 located_in GO:0005576
http://purl.obolibrary.org/obo/PR_000018910adiponectin, signal peptide removed form
http://purl.obolibrary.org/obo/PR_Q15848adiponectin (human)
http://purl.obolibrary.org/obo/PR_000003777adiponectin
HP:0040139Lipogranulomatosis
HP:0002955Granulomatosis
http://purl.obolibrary.org/obo/UBERON_0003403skin of forearm
http://purl.obolibrary.org/obo/UBERON_0002427arm skin
http://purl.obolibrary.org/obo/UBERON_0003531forelimb skin
HP:0040137Comedonal acne
HP:0040138Mucinous histiocytosis
HP:0100727Histiocytosis
HP:0004311Abnormal macrophage morphology
http://purl.obolibrary.org/obo/UBERON_0003406cartilage of respiratory system
HP:0040135Abnormal transferrin saturation
http://purl.obolibrary.org/obo/UBERON_0003407cartilage of nasal septum
http://purl.obolibrary.org/obo/UBERON_0001823nasal cartilage
http://purl.obolibrary.org/obo/UBERON_0003566head connective tissue
HP:0003142Excessive purine production
HP:0003141Increased LDL cholesterol concentration
HP:0031886Abnormal LDL cholesterol concentration
HP:0040134Abnormal hepatic iron concentration
HP:0003144Increased serum serotonin
http://purl.obolibrary.org/obo/GO_0030097hemopoiesis
http://purl.obolibrary.org/obo/GO_0048534hematopoietic or lymphoid organ development
HP:0003140T-wave inversion in the right precordial leads
HP:0010872T-wave inversion
HP:0005135Abnormal T-wave
HP:0003115Abnormal EKG
HP:0500015Abnormal cardiac test
HP:0003149Hyperuricosuria
HP:0012610Abnormality of urinary uric acid concentration
HP:0003146Hypocholesterolemia
HP:0003145Decreased adenosylcobalamin
HP:0003148Elevated serum acid phosphatase
http://purl.obolibrary.org/obo/UBERON_0003419mesenchyme of parotid
http://purl.obolibrary.org/obo/UBERON_0003412pelvic appendage bud mesenchyme
http://purl.obolibrary.org/obo/UBERON_0003413pectoral appendage bud mesenchyme
http://purl.obolibrary.org/obo/UBERON_0010329paired limb/fin bud mesenchyme
http://purl.obolibrary.org/obo/UBERON_0003414mesenchyme of mandible
http://purl.obolibrary.org/obo/UBERON_0003415mesenchyme of nasal septum
HP:0040148Cortical myoclonus
HP:0001336Myoclonus
HP:0004305Involuntary movements
http://purl.obolibrary.org/obo/UBERON_0003416mesenchyme of tongue
HP:0040149Woolly scalp hair
HP:0002224Woolly hair
HP:0010719Abnormality of hair texture
http://purl.obolibrary.org/obo/UBERON_0003417mesenchyme of soft palate
HP:0040146D-2-hydroxyglutaric acidemia
http://purl.obolibrary.org/obo/UBERON_0003418mesenchyme of submandibular gland
HP:0040147L-2-hydroxyglutaric acidemia
HP:0003153Cystathioninuria
HP:0040144L-2-hydroxyglutaric aciduria
HP:00322782-hydroxyglutarate aciduria
HP:0040145Dicarboxylic acidemia
HP:0010995Abnormal circulating dicarboxylic acid concentration
HP:0032368Acidemia
HP:0003155Elevated alkaline phosphatase
HP:0040142Reduced 5-oxoprolinase level
HP:0003154Increased circulating ACTH level
HP:0011043Abnormality of circulating adrenocorticotropin level
HP:0040143Dystopic os odontoideum
HP:0005667Os odontoideum
HP:0040140Degeneration of the striatum
HP:0002180Neurodegeneration
HP:0010994Abnormal corpus striatum morphology
HP:0002134Abnormality of the basal ganglia
HP:0040141Tardive dyskinesia
HP:0100660Dyskinesia
HP:0003150Glutaric aciduria
http://purl.obolibrary.org/obo/CHEBI_36699corticosteroid hormone
http://purl.obolibrary.org/obo/CHEBI_50858corticosteroid
http://purl.obolibrary.org/obo/CHEBI_26764steroid hormone
http://purl.obolibrary.org/obo/CHEBI_58001primary aliphatic ammonium ion
HP:0003159Hyperoxaluria
HP:0003158Hyposthenuria
http://purl.obolibrary.org/obo/UBERON_0003422mesenchyme of umbilical cord
HP:0040119Unilateral conductive hearing impairment
HP:0000405Conductive hearing impairment
http://purl.obolibrary.org/obo/UBERON_0003424mesenchyme of hard palate
HP:0040117Atresia of the Eustachian tube
http://purl.obolibrary.org/obo/UBERON_0003425renal lymph node
http://purl.obolibrary.org/obo/UBERON_0000029lymph node
http://purl.obolibrary.org/obo/UBERON_0005057immune organ
HP:0040118Stenosis of the Eustachian tube
http://purl.obolibrary.org/obo/UBERON_0003426dermis adipose tissue
http://purl.obolibrary.org/obo/UBERON_0003585dermis connective tissue
HP:0040116Aplasia of the Eustachian tube
http://purl.obolibrary.org/obo/UBERON_0003428gonadal fat pad
HP:0040113Old-aged sensorineural hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000365Hearing impairment
HP:0000364Hearing abnormality
HP:0031704Abnormal ear physiology
HP:0011389Functional abnormality of the inner ear
http://purl.obolibrary.org/obo/UBERON_0003429abdomen nerve
http://purl.obolibrary.org/obo/UBERON_0003825nerve of abdominal segment
HP:0040114Absence of the reflex of the tensor tympani muscle
HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency
HP:0500012Abnormality of gonadotropin-releasing hormone level
HP:0012285Abnormal hypothalamus physiology
HP:0040111Bilateral external ear deformity
HP:0003163Elevated urinary delta-aminolevulinic acid
HP:0040112Abnormal number of tubercles
HP:0003166Increased urinary taurine
HP:0003165Elevated circulating parathyroid hormone level
HP:0100530Abnormal calcium-phosphate regulating hormone level
HP:0040110Morphological abnormality of the saccule
HP:0011380Morphological abnormality of the semicircular canal
HP:0003160Abnormal isoelectric focusing of serum transferrin
HP:0012347Abnormal protein N-linked glycosylation
HP:0012346Abnormal protein glycosylation
HP:0012345Abnormal glycosylation
HP:0003162Fasting hypoglycemia
HP:0001943Hypoglycemia
HP:0011015Abnormal blood glucose concentration
http://purl.obolibrary.org/obo/UBERON_0003420mesenchyme of sublingual gland
HP:00031614-Hydroxyphenylpyruvic aciduria
HP:0003168Dibasicaminoaciduria
HP:0003167Carnosinuria
HP:0030792Jaw neoplasm
HP:0012289Facial neoplasm
HP:0012288Neoplasm of head and neck
HP:0030793Jaw swelling
HP:0030795Reduced C-peptide level
HP:0030790Abnormal cerumen color
HP:0030787Cerumen abnormality
HP:0000372Abnormality of the auditory canal
http://purl.obolibrary.org/obo/UBERON_0015410heart plus pericardium
http://purl.obolibrary.org/obo/UBERON_0005178thoracic cavity element
http://purl.obolibrary.org/obo/UBERON_0002075viscus
http://purl.obolibrary.org/obo/UBERON_0003433arm nerve
http://purl.obolibrary.org/obo/UBERON_0003434wrist nerve
http://purl.obolibrary.org/obo/UBERON_0003448manus nerve
http://purl.obolibrary.org/obo/UBERON_0003441forelimb nerve
HP:0003180Flat acetabular roof
http://purl.obolibrary.org/obo/UBERON_0003435pedal digit nerve
http://purl.obolibrary.org/obo/UBERON_0003445pes nerve
HP:0040128Abnormal sweat electrolytes
http://purl.obolibrary.org/obo/UBERON_0003436shoulder nerve
http://purl.obolibrary.org/obo/UBERON_0003437eyelid nerve
http://purl.obolibrary.org/obo/UBERON_0003438iris nerve
http://purl.obolibrary.org/obo/CARO_0001001neuron projection bundle
http://purl.obolibrary.org/obo/CARO_0001000multi-cell-part structure
HP:0040127Abnormal sweat homeostasis
HP:0040124Patent tuba eustachii
HP:0003175Hypoplastic ischia
HP:0040122Impairment of the the acoustic reflex
HP:0040123Impairment of the reflex of the tensor tympani muscle
HP:0003177Squared iliac bones
HP:0040120Abnormality of the reflex of the tensor tympani muscle
HP:0040121Abnormality of the acoustic reflex
HP:0004454Abnormal middle ear reflexes
HP:0011452Functional abnormality of the middle ear
http://purl.obolibrary.org/obo/UBERON_0003430neck nerve
HP:0003173Hypoplastic pubic bone
HP:0009104Aplasia/Hypoplasia of the pubic bone
HP:0009103Aplasia/Hypoplasia involving the pelvis
http://purl.obolibrary.org/obo/UBERON_0003431leg nerve
http://purl.obolibrary.org/obo/UBERON_0003442hindlimb nerve
http://purl.obolibrary.org/obo/UBERON_0003440limb nerve
HP:0003172Abnormality of the pubic bone
http://purl.obolibrary.org/obo/UBERON_0003432chest nerve
http://purl.obolibrary.org/obo/UBERON_0003824nerve of thoracic segment
http://purl.obolibrary.org/obo/UBERON_0003439nerve of trunk region
HP:0030796Increased C-peptide level
HP:0030794Abnormal C-peptide level
HP:0003179Protrusio acetabuli
HP:0030797Reduced volume of central subdivision of bed nucleus of stria terminalis
HP:0030798Abnormality of the bed nucleus of stria terminalis
HP:0030799Scaphocephaly
HP:0000268Dolichocephaly
http://purl.obolibrary.org/obo/UBERON_0015418urethra mesenchymal layer
HP:0040059Calcification of ribs
HP:0040056Absent upper eyelashes
HP:0000561Absent eyelashes
HP:0002550Absent facial hair
HP:0002298Absent hair
HP:0040057Abnormality of nasal hair
HP:0040054Short upper eyelashes
HP:0040055Short lower eyelashes
HP:0010764Short eyelashes
HP:0040053Long lower eyelashes
HP:0040052Abnormality of lower eyelashes
HP:0000527Long eyelashes
HP:0040050Sparse upper eyelashes
HP:0000653Sparse eyelashes
HP:0200102Sparse or absent eyelashes
HP:0002209Sparse scalp hair
HP:0008070Sparse hair
HP:0010720Abnormal hair pattern
HP:0011362Abnormal hair quantity
HP:0100037Abnormality of the scalp hair
HP:0001965Abnormality of the scalp
HP:0040051Abnormality of upper eyelashes
HP:0000499Abnormal eyelash morphology
HP:0040061Osteosclerosis of the radius
HP:0003967Sclerotic forearm bones
HP:0040062Slender radius
HP:0003969Slender forearm bones
HP:0045008Abnormal shape of the radius
HP:0045009Abnormal morphology of the radius
HP:0003100Slender long bone
http://purl.obolibrary.org/obo/CHEBI_24628imidazolidine-2,4-dione
http://purl.obolibrary.org/obo/CHEBI_55370imidazolidinone
http://purl.obolibrary.org/obo/CHEBI_38261imidazolidines
http://purl.obolibrary.org/obo/CHEBI_38304diazolidine
http://purl.obolibrary.org/obo/CHEBI_25693organic heteromonocyclic compound
http://purl.obolibrary.org/obo/CHEBI_33670heteromonocyclic compound
http://purl.obolibrary.org/obo/CHEBI_33661monocyclic compound
http://purl.obolibrary.org/obo/CHEBI_24621hormone
http://purl.obolibrary.org/obo/CHEBI_33280molecular messenger
HP:0040039Onycholysis of fingernails
HP:0040036Onychogryposis of fingernail
HP:0001805Onychogryposis
HP:0001231Abnormal fingernail morphology
HP:0040034Abnormality of the second metatarsal bone
HP:0040035Abnormality of the fourth metatarsal bone
http://purl.obolibrary.org/obo/CHEBI_36608acyclic acid anhydride
http://purl.obolibrary.org/obo/CHEBI_36606acid anhydride
HP:0040032Hypoplasia of the upper eyelids
HP:0430009Hypoplasia of eyelid
HP:0011226Aplasia/Hypoplasia of the eyelid
HP:0040033Aplasia/Hypoplasia of the fifth metatarsal bone
HP:0001964Aplasia/Hypoplasia of metatarsal bones
HP:0006494Aplasia/Hypoplasia involving bones of the feet
HP:0008089Abnormality of the fifth metatarsal bone
HP:0001832Abnormal metatarsal morphology
http://purl.obolibrary.org/obo/GO_0019693ribose phosphate metabolic process
http://purl.obolibrary.org/obo/GO_0006796phosphate-containing compound metabolic process
HP:0040030Chorioretinal hypopigmentation
HP:0040031Chorioretinal hyperpigmentation
HP:0007661Abnormality of chorioretinal pigmentation
HP:0000532Abnormal chorioretinal morphology
http://purl.obolibrary.org/obo/HsapDv_0000082newborn human stage
http://purl.obolibrary.org/obo/HsapDv_0000083infant stage
http://purl.obolibrary.org/obo/HsapDv_0000080immature stage
http://purl.obolibrary.org/obo/HsapDv_0000081child stage
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11801THY1 (human)
http://purl.obolibrary.org/obo/CHEBI_24612homocystines
http://purl.obolibrary.org/obo/CHEBI_35489organic disulfide
http://purl.obolibrary.org/obo/CHEBI_48343disulfide
http://purl.obolibrary.org/obo/CHEBI_26834sulfur-containing amino acid
http://purl.obolibrary.org/obo/CHEBI_33576sulfur-containing carboxylic acid
http://purl.obolibrary.org/obo/CHEBI_33261organosulfur compound
http://purl.obolibrary.org/obo/HsapDv_0000086adolescent stage
http://purl.obolibrary.org/obo/HsapDv_0000087human adult stage
http://purl.obolibrary.org/obo/HsapDv_0000088human early adulthood stage
http://purl.obolibrary.org/obo/HsapDv_0000089young adult stage
HP:0040049Macular edema
HP:0030498Macular thickening
http://purl.obolibrary.org/obo/CHEBI_24610homocysteines
HP:0040047Abnormal right hemidiaphragm morphology
HP:0040046Abnormal left hemidiaphragm morphology
HP:0040045Abnormal hemidiaphragm morphology
HP:0040043Hypoplasia of the eccrine sweat glands
HP:0007387Hypoplastic sweat glands
HP:0040044Hypoplasia of the diaphragm
HP:0010315Aplasia/Hypoplasia of the diaphragm
HP:0000775Abnormality of the diaphragm
HP:0009131Abnormality of the musculature of the thorax
HP:0009004Hypoplasia of the musculature
HP:0001460Aplasia/Hypoplasia involving the skeletal musculature
HP:0040042Aplasia of the eccrine sweat glands
HP:0011136Aplasia of the sweat glands
HP:0007592Aplasia/Hypoplastia of the eccrine sweat glands
HP:0011135Aplasia/Hypoplasia of the sweat glands
HP:0000971Abnormal sweat gland morphology
HP:0040040Toenail onycholysis
HP:0008388Abnormal toenail morphology
HP:0001806Onycholysis
HP:0009723Abnormality of the subungual region
http://purl.obolibrary.org/obo/HsapDv_0000091human late adulthood stage
http://purl.obolibrary.org/obo/HsapDv_0000092human middle aged stage
http://purl.obolibrary.org/obo/GO_0030003cellular cation homeostasis
http://purl.obolibrary.org/obo/GO_0006873cellular ion homeostasis
http://purl.obolibrary.org/obo/GO_0055082cellular chemical homeostasis
http://purl.obolibrary.org/obo/GO_0055080cation homeostasis
http://purl.obolibrary.org/obo/GO_0050801ion homeostasis
http://purl.obolibrary.org/obo/GO_0048878chemical homeostasis
HP:0040098Basalioma of the outer ear
HP:0002671Basal cell carcinoma
HP:0040099Abnormality of the round window
HP:0040096Neoplasm of the inner ear
HP:0040097Neoplasm of the ceruminal gland
HP:0040095Neoplasm of the outer ear
HP:0012780Neoplasm of the ear
HP:0040092Asymmetry of the shape of the ears
HP:0040093Asymmetry of the position of the ears
HP:0040090Abnormality of the tympanic membrane
HP:0040091Asymmetry of the size of ears
HP:0010722Asymmetry of the ears
HP:0000377Abnormality of the pinna
http://purl.obolibrary.org/obo/GO_0030016myofibril
http://purl.obolibrary.org/obo/GO_0043292contractile fiber
http://purl.obolibrary.org/obo/GO_0043232intracellular non-membrane-bounded organelle
http://purl.obolibrary.org/obo/GO_0043228non-membrane-bounded organelle
http://purl.obolibrary.org/obo/GO_0099512supramolecular fiber
http://purl.obolibrary.org/obo/GO_0099081supramolecular polymer
http://purl.obolibrary.org/obo/GO_0099080supramolecular complex
http://purl.obolibrary.org/obo/CHEBI_24632hydrocarbon
http://purl.obolibrary.org/obo/CHEBI_33245organic fundamental parent
http://purl.obolibrary.org/obo/CHEBI_37175organic hydride
http://purl.obolibrary.org/obo/CHEBI_33692hydrides
http://purl.obolibrary.org/obo/GO_0030017sarcomere
http://purl.obolibrary.org/obo/GO_0032682negative regulation of chemokine production
http://purl.obolibrary.org/obo/CHEBI_24662hydroxy-amino acid
http://purl.obolibrary.org/obo/CHEBI_83925non-proteinogenic alpha-amino acid
http://purl.obolibrary.org/obo/GO_0032689negative regulation of interferon-gamma production
http://purl.obolibrary.org/obo/GO_0001818negative regulation of cytokine production
http://purl.obolibrary.org/obo/CHEBI_24663hydroxy-5beta-cholanic acid
http://purl.obolibrary.org/obo/CHEBI_362485beta-cholanic acids
http://purl.obolibrary.org/obo/CHEBI_1368895beta steroid
http://purl.obolibrary.org/obo/CHEBI_36278cholanic acids
http://purl.obolibrary.org/obo/CHEBI_47891steroid acid
http://purl.obolibrary.org/obo/CHEBI_36078cholanoid
HP:0040078Axonal degeneration
HP:0040079Irregular dentition
http://purl.obolibrary.org/obo/GO_0030031cell projection assembly
http://purl.obolibrary.org/obo/GO_0022607cellular component assembly
HP:0040071Abnormal morphology of ulna
HP:0002997Abnormality of the ulna
http://purl.obolibrary.org/obo/CHEBI_24654hydroxy fatty acid
http://purl.obolibrary.org/obo/CHEBI_35868hydroxy monocarboxylic acid
http://purl.obolibrary.org/obo/CHEBI_24669hydroxy carboxylic acid
http://purl.obolibrary.org/obo/CHEBI_35366fatty acid
http://purl.obolibrary.org/obo/CHEBI_25384monocarboxylic acid
HP:0040087Abnormal blood folate concentration
HP:0012335Abnormality of folate metabolism
HP:0040085Abnormal circulating aldosterone
HP:0040086Abnormal prolactin level
HP:0000830Anterior hypopituitarism
HP:0040075Hypopituitarism
HP:0011747Abnormality of the anterior pituitary
HP:0040083Toe walking
HP:0040082Happy demeanor
HP:0100851Abnormal emotion/affect behavior
HP:0040080Anteverted ears
HP:0000357Abnormal location of ears
HP:0000356Abnormality of the outer ear
http://purl.obolibrary.org/obo/GO_0007605sensory perception of sound
http://purl.obolibrary.org/obo/GO_0050954sensory perception of mechanical stimulus
http://purl.obolibrary.org/obo/GO_0007608sensory perception of smell
http://purl.obolibrary.org/obo/GO_0007606sensory perception of chemical stimulus
http://purl.obolibrary.org/obo/CHEBI_132966hippurate
http://purl.obolibrary.org/obo/CHEBI_57670N-acylglycinate
http://purl.obolibrary.org/obo/GO_0007601visual perception
http://purl.obolibrary.org/obo/GO_0050953sensory perception of light stimulus
http://purl.obolibrary.org/obo/GO_0007600sensory perception
http://purl.obolibrary.org/obo/GO_0050877nervous system process
http://purl.obolibrary.org/obo/CHEBI_132961methylsuccinate
http://purl.obolibrary.org/obo/CHEBI_1329705-ammoniolevulinic acid
http://purl.obolibrary.org/obo/CHEBI_65296primary ammonium ion
http://purl.obolibrary.org/obo/CHEBI_35274ammonium ion derivative
http://purl.obolibrary.org/obo/CHEBI_33702polyatomic cation
http://purl.obolibrary.org/obo/CHEBI_25697organic cation
HP:00057092-3 toe cutaneous syndactyly
HP:0010621Cutaneous syndactyly of toes
HP:0012725Cutaneous syndactyly
HP:0006101Finger syndactyly
HP:0001770Toe syndactyly
HP:0001159Syndactyly
http://purl.obolibrary.org/obo/UBERON_2005260fenestrated capillary
http://purl.obolibrary.org/obo/UBERON_0001982capillary
http://purl.obolibrary.org/obo/UBERON_0010523microcirculatory vessel
http://purl.obolibrary.org/obo/UBERON_0004638blood vessel endothelium
http://purl.obolibrary.org/obo/UBERON_0004852cardiovascular system endothelium
HP:0005707Bilateral triphalangeal thumbs
http://purl.obolibrary.org/obo/GO_0007631feeding behavior
http://purl.obolibrary.org/obo/CHEBI_132954sebacate
http://purl.obolibrary.org/obo/CHEBI_132952oxalate
http://purl.obolibrary.org/obo/GO_0007626locomotory behavior
HP:0005701Multiple enchondromatosis
HP:0002763Abnormal cartilage morphology
HP:0030038Enchondroma
HP:0005700Increased bone density with cystic changes
HP:0011001Increased bone mineral density
http://purl.obolibrary.org/obo/HsapDv_0000002embryonic human stage
http://purl.obolibrary.org/obo/UBERON_2005273intestinal mucosal muscle
http://purl.obolibrary.org/obo/UBERON_0004221intestine smooth muscle
http://purl.obolibrary.org/obo/UBERON_0004226gastrointestinal system smooth muscle
HP:0005716Lethal skeletal dysplasia
http://purl.obolibrary.org/obo/HsapDv_0000001human life cycle
http://purl.obolibrary.org/obo/GO_0007620copulation
http://purl.obolibrary.org/obo/CHEBI_132943aspartate
http://purl.obolibrary.org/obo/CHEBI_33558alpha-amino-acid anion
http://purl.obolibrary.org/obo/CHEBI_37022amino-acid anion
http://purl.obolibrary.org/obo/GO_0007622rhythmic behavior
http://purl.obolibrary.org/obo/CHEBI_1329412-hydroxyglutarate
http://purl.obolibrary.org/obo/GO_0007623circadian rhythm
http://purl.obolibrary.org/obo/GO_0048511rhythmic process
http://purl.obolibrary.org/obo/GO_0007617mating behavior
http://purl.obolibrary.org/obo/GO_0019098reproductive behavior
http://purl.obolibrary.org/obo/GO_0007610behavior
http://purl.obolibrary.org/obo/GO_0048609multicellular organismal reproductive process
http://purl.obolibrary.org/obo/GO_0007618mating
HP:0005715Flattened knee epiphyses
http://purl.obolibrary.org/obo/CHEBI_132939ethylmalonate(2-)
http://purl.obolibrary.org/obo/CHEBI_28965dicarboxylic acid dianion
http://purl.obolibrary.org/obo/CHEBI_38716carboxylic acid dianion
http://purl.obolibrary.org/obo/CHEBI_132938ethylmalonate
http://purl.obolibrary.org/obo/HsapDv_0000037fetal stage
http://purl.obolibrary.org/obo/GO_0032609interferon-gamma production
http://purl.obolibrary.org/obo/GO_0032602chemokine production
http://purl.obolibrary.org/obo/GO_0001816cytokine production
http://purl.obolibrary.org/obo/GO_0010467gene expression
http://purl.obolibrary.org/obo/GO_0019637organophosphate metabolic process
http://purl.obolibrary.org/obo/GO_0006793phosphorus metabolic process
http://purl.obolibrary.org/obo/HsapDv_0000045prenatal stage
HP:0005880Metacarpophalangeal synostosis
HP:0009700Finger symphalangism
HP:0100262Synostosis involving digits
HP:0011911Abnormality of metacarpophalangeal joint
HP:0005881Spinal instability
HP:0005882Dermatoglyphic variants
HP:0003221Chromosomal breakage induced by crosslinking agents
HP:0040012Chromosome breakage
HP:0003220Abnormality of chromosome stability
HP:0030826Eyelid fasciculation
HP:0031785Abnormal eyelid movement
HP:0031879Abnormal eyelid physiology
HP:0032040Abnormal ocular adnexa physiology
HP:0030828Wheezing
HP:0030822Hooded upper eyelid
HP:0030823Scleral thickening
HP:0003226Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
HP:0030824Mizuo phenomenon
HP:0030825Absent foveal reflex
HP:0000493Abnormal foveal morphology
HP:0001103Abnormal macular morphology
HP:0000479Abnormal retinal morphology
HP:0003228Hypernatremia
HP:0010931Abnormal blood sodium concentration
HP:0010930Abnormal blood monovalent inorganic cation concentration
HP:0003223Decreased methylcobalamin
HP:0040126Abnormal vitamin B12 level
HP:0004341Abnormality of vitamin B12 metabolism
HP:0004340Abnormality of vitamin B metabolism
HP:0100508Abnormality of vitamin metabolism
HP:0005885Absent ossification of cervical vertebral bodies
HP:0004599Absent or minimally ossified vertebral bodies
HP:0100569Abnormally ossified vertebrae
HP:0003225Reduced coagulation factor V activity
HP:0031899Abnormal coagulation factor V activity
HP:0005886Aphalangy of the hands
HP:0030821Hooded lower eyelid
HP:0030820Hooded eyelid
HP:0003224Increased cellular sensitivity to UV light
HP:0005891Progressive forearm bowing
HP:0003956Bowed forearm bones
HP:0006488Bowing of the arm
HP:0040073Abnormal forearm bone morphology
HP:0006383Progressive bowing of long bones
HP:0006487Bowing of the long bones
HP:0030819Ski jump nail
http://purl.obolibrary.org/obo/NCBITaxon_10090Mus musculus
http://purl.obolibrary.org/obo/NCBITaxon_9989Rodentia
http://purl.obolibrary.org/obo/NCBITaxon_40674Mammalia
http://purl.obolibrary.org/obo/NCBITaxon_33208Metazoa
http://purl.obolibrary.org/obo/NCBITaxon_33154Opisthokonta
http://purl.obolibrary.org/obo/NCBITaxon_2759Eukaryota
http://purl.obolibrary.org/obo/OBI_0100026organism
HP:0005892Proximal tibial and fibular fusion
HP:0003232Mitochondrial malic enzyme reduced
HP:0005894Double first metacarpals
HP:0003231Hypertyrosinemia
HP:0010917Abnormal circulating tyrosine concentration
HP:0004338Abnormal circulating aromatic amino acid concentration
HP:0030815Lipoma of the tongue
HP:0100648Neoplasm of the tongue
HP:0100649Neoplasm of the oral cavity
HP:0030816Gingival recession
HP:0000168Abnormality of the gingiva
HP:0030817Beaked nails
HP:0005890Hyperostosis cranialis interna
HP:0004437Cranial hyperostosis
HP:0100774Hyperostosis
HP:0030818Central nail canal
HP:0008404Nail dystrophy
HP:0003238Hyperpepsinogenemia I
HP:0005899Metaphyseal dysostosis
HP:0030811Tongue pain
HP:0003237Increased circulating IgG level
HP:0410242Abnormal circulating IgG level
HP:0030814Orange discolored tonsils
HP:0003239Phosphoethanolaminuria
HP:0003109Hyperphosphaturia
HP:0012599Abnormal urine phosphate concentration
HP:0012591Abnormal urinary electrolyte concentration
HP:0005895Radial deviation of thumb terminal phalanx
HP:0009617Abnormality of the distal phalanx of the thumb
HP:0003234Decreased plasma carnitine
HP:0010967Abnormal circulating carnitine concentration
HP:0010966Abnormal circulating fatty-acid anion concentration
HP:0003233Decreased HDL cholesterol concentration
HP:0010981Hypolipoproteinemia
HP:0031888Abnormal HDL cholesterol concentration
HP:0005897Severe generalized osteoporosis
HP:0003236Elevated serum creatine kinase
HP:0040081Abnormal circulating creatine kinase concentration
HP:0011021Abnormality of circulating enzyme level
HP:0030810Abnormal tongue physiology
HP:0003235Hypermethioninemia
HP:0010901Abnormal circulating methionine concentration
http://www.informatics.jax.org/marker/MGI:107538Klrb1c (mouse)
HP:0030808Ragged cuticle
HP:0003241External genital hypoplasia
HP:0003240Increased phosphoribosylpyrophosphate synthetase level
HP:0032459Abnormal phosphoribosylpyrophosphate synthetase level
HP:0030804Trachyonychia
HP:0030805Absent lunula
HP:0030806Fast-growing nails
HP:0030807Abnormal nail growth
HP:0003249Genital ulcers
HP:0003248Gonadal tissue inappropriate for external genitalia or chromosomal sex
HP:0000062Ambiguous genitalia
HP:0030801Reduced visual accommodation
HP:0030800Abnormal visual accommodation
HP:0410149Drug-induced anaphylaxis
HP:0030802Lower eyelid retraction
HP:0500043Eyelid retraction
HP:0030803Platonychia
HP:0002164Nail dysplasia
HP:0001597Abnormality of the nail
HP:0410146Increased biotinidase level
HP:0003244Penile hypospadias
HP:0000047Hypospadias
HP:0100627Displacement of the urethral meatus
HP:0000795Abnormality of the urethra
HP:0010936Abnormality of the lower urinary tract
HP:0032076Abnormal male urethral meatus morphology
HP:0000036Abnormality of the penis
HP:0410145Decreased biotinidase level
HP:0410144Abnormal biotinidase level
HP:0003247Overgrowth of external genitalia
HP:0410148Idiopathic anaphylaxis
HP:0003246Prominent scrotal raphe
HP:0000045Abnormality of the scrotum
HP:0410147Eosinophilic infiltration in the stomach mucosa
HP:0005263Gastritis
HP:0004295Abnormality of the gastric mucosa
HP:0002577Abnormality of the stomach
HP:0004386Gastrointestinal inflammation
HP:0032064Gastrointestinal eosinophilia
http://purl.obolibrary.org/obo/PR_Q14376PR:Q14376 located_in GO:0005829
http://purl.obolibrary.org/obo/PR_000007812UDP-glucose 4-epimerase
HP:0003252Anteriorly displaced genitalia
HP:0003251Male infertility
HP:0000789Infertility
HP:0012041Decreased fertility in males
HP:0000144Decreased fertility
HP:0410133Chronic idiopathic urticaria
HP:0410132Increased level of L-pyroglutamic acid in urine
HP:0003250Aplasia of the vagina
HP:0011026Aplasia/Hypoplasia of the vagina
HP:0410139Exercise induced anaphylaxis
HP:0100845Anaphylactic shock
HP:0100326Immunologic hypersensitivity
HP:0003259Elevated serum creatinine
HP:0012100Abnormal circulating creatinine level
HP:0410138Vibratory urticaria
HP:0410135Cold urticaria
HP:0003258Glyoxalase deficiency
HP:0410137Solar urticaria
HP:0000992Cutaneous photosensitivity
HP:0410136Aquagenic urticaria
HP:0410134Physical urticaria
HP:0001025Urticaria
HP:0030861Decreased CSF amyloid level
HP:0005849Diffuse cerebral calcification
HP:0002514Cerebral calcification
http://purl.obolibrary.org/obo/UBERON_0003368epithelium of hard palate
http://purl.obolibrary.org/obo/UBERON_0003360epithelium of parotid gland
http://purl.obolibrary.org/obo/UBERON_0003361epithelium of sublingual gland
http://purl.obolibrary.org/obo/UBERON_0003364epithelium of right lung
http://purl.obolibrary.org/obo/UBERON_0003365epithelium of left lung
http://purl.obolibrary.org/obo/UBERON_0000115lung epithelium
HP:0005844Rounded middle phalanx of finger
HP:0030866Large knee
HP:0002815Abnormality of the knee
HP:0030867Vertical orbital dystopia
HP:0100886Abnormality of globe location
HP:0030868Monorchism
HP:0030869Anorchism
HP:0000035Abnormal testis morphology
HP:0000032Abnormality of male external genitalia
HP:0030862Elevated CSF amyloid level
HP:0030860Abnormal CSF amyloid level
HP:0025456Abnormal CSF protein level
HP:0005841Calcific stippling of infantile cartilaginous skeleton
HP:0030863Nasal flaring
HP:0030864Intercostal retractions
HP:0002098Respiratory distress
HP:0002094Dyspnea
HP:0030865Large elbow
http://purl.obolibrary.org/obo/UBERON_0003379cardiac muscle of right atrium
http://www.informatics.jax.org/marker/MGI:107527Ly6a (mouse)
http://purl.obolibrary.org/obo/UBERON_0003371pelvic appendage bud ectoderm
http://purl.obolibrary.org/obo/UBERON_0003372pectoral appendage bud ectoderm
HP:0005850Congenital talipes calcaneovalgus
HP:0001884Talipes calcaneovalgus
HP:0001883Talipes
HP:0005656Positional foot deformity
http://purl.obolibrary.org/obo/UBERON_0003373ectoderm of footplate
http://purl.obolibrary.org/obo/UBERON_0000924ectoderm
HP:0030859Topoisomerase I antibody positivity
http://purl.obolibrary.org/obo/UBERON_0003374chorionic ectoderm
HP:0005855Multiple prenatal fractures
HP:0002659Increased susceptibility to fractures
HP:0030855Anterior staphyloma
HP:0005856Ulnar radial head dislocation
HP:0003083Dislocated radial head
HP:0003995Abnormality of the radial head
HP:0010596Abnormality of the proximal radial epiphysis
HP:0003999Abnormality of radial epiphyses
HP:0002818Abnormality of the radius
HP:0040072Abnormality of forearm bone
HP:0003946Abnormality of the epiphyses of the elbow
HP:0003042Elbow dislocation
HP:0030310Upper extremity joint dislocation
HP:0100744Abnormality of the humeroradial joint
HP:0030856Posterior staphyloma
HP:0005857Cervical spina bifida
HP:0030857Eye movement-induced pain
HP:0200026Ocular pain
HP:0030851Low pulse pressure
HP:0005852Limited elbow extension and supination
HP:0001377Limited elbow extension
HP:0002996Limited elbow movement
HP:0009811Abnormality of the elbow
HP:0030852High pulse pressure
HP:0030850Abnormal pulse pressure
HP:0005853Congenital foot contraction deformities
HP:0030854Scleral staphyloma
HP:0000591Abnormal sclera morphology
HP:0003209Decreased pyruvate carboxylase activity
HP:0003208Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
http://purl.obolibrary.org/obo/GO_0140353lipid export from cell
http://purl.obolibrary.org/obo/GO_0006869lipid transport
http://purl.obolibrary.org/obo/UBERON_0003389mesothelium of diaphragm
http://purl.obolibrary.org/obo/UBERON_0003381cardiac muscle of right ventricle
http://purl.obolibrary.org/obo/UBERON_0003382cardiac muscle of left ventricle
http://purl.obolibrary.org/obo/UBERON_0018649cardiac muscle tissue of ventricle
http://purl.obolibrary.org/obo/UBERON_0003383cardiac muscle tissue of interventricular septum
http://purl.obolibrary.org/obo/UBERON_0004667interventricular septum muscular part
http://purl.obolibrary.org/obo/UBERON_0004492cardiac muscle tissue of cardiac septum
http://purl.obolibrary.org/obo/UBERON_0003384skeletal muscle tissue of pharynx
http://purl.obolibrary.org/obo/UBERON_0004830respiratory system skeletal muscle
HP:0030848Elevated jugular venous pressure
HP:0030849Hepatojugular reflux
http://purl.obolibrary.org/obo/UBERON_0003386smooth muscle of eye
http://purl.obolibrary.org/obo/UBERON_0003387smooth muscle of trachea
http://purl.obolibrary.org/obo/UBERON_0004233lower respiratory tract smooth muscle
http://purl.obolibrary.org/obo/UBERON_0004225respiratory system smooth muscle
http://purl.obolibrary.org/obo/UBERON_0001135smooth muscle tissue
HP:0005866Opposable triphalangeal thumb
HP:0001199Triphalangeal thumb
HP:0009602Abnormality of thumb phalanx
HP:0001172Abnormal thumb morphology
HP:0030844Undetectable pattern electroretinogram
HP:0030467Abnormal pattern electroretinogram
HP:0000512Abnormal electroretinogram
HP:0030453Abnormal visual electrophysiology
HP:0003205Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
HP:0005867Fused fourth and fifth metacarpals
HP:0009707Synostosis involving the 4th metacarpal
HP:0009701Metacarpal synostosis
HP:0100265Synostosis of metacarpals/metatarsals
HP:0004278Synostosis involving bones of the hand
HP:0100238Synostosis involving bones of the upper limbs
HP:0010012Abnormality of the 4th metacarpal
HP:0030845Heliotrope rash of eyelid
HP:0003204Intracellular accumulation of autofluorescent lipopigment storage material
HP:0005868Metaphyseal enchondromatosis
HP:0003207Arterial calcification
HP:0004934Vascular calcification
HP:0011915Cardiovascular calcification
HP:0010766Ectopic calcification
HP:0030847Abnormal jugular venous pressure
HP:0003206Decreased activity of NADPH oxidase
HP:0004358Abnormality of superoxide metabolism
HP:0003201Rhabdomyolysis
HP:0030840Ankle pain
HP:0005863Type E brachydactyly
HP:0030841Toe pain
HP:0003200Ragged-red muscle fibers
HP:0004303Abnormal muscle fiber morphology
HP:0030842Choking episodes
HP:0100738Abnormal eating behavior
HP:0003203Impaired oxidative burst
HP:0011993Impaired neutrophil bactericidal activity
HP:0005864Pseudoarthrosis
HP:0030843Cardiac amyloidosis
http://purl.obolibrary.org/obo/UBERON_0003380cardiac muscle of left atrium
http://purl.obolibrary.org/obo/UBERON_0004490cardiac muscle tissue of atrium
http://purl.obolibrary.org/obo/UBERON_0004493cardiac muscle tissue of myocardium
http://purl.obolibrary.org/obo/UBERON_0001133cardiac muscle tissue
HP:0003219Ethylmalonic aciduria
http://purl.obolibrary.org/obo/HsapDv_0000204mature stage
http://purl.obolibrary.org/obo/HsapDv_0000000human life cycle stage
http://purl.obolibrary.org/obo/UBERON_0003393mesentery of urinary system
HP:0005871Metaphyseal chondrodysplasia
HP:0100255Metaphyseal dysplasia
HP:0002652Skeletal dysplasia
HP:0003210Decreased methylmalonyl-CoA mutase activity
HP:0000816Abnormality of Krebs cycle metabolism
http://purl.obolibrary.org/obo/UBERON_0003394mesentery of hindgut
http://purl.obolibrary.org/obo/UBERON_0003395mesentery of rectum
HP:0005872Brachytelomesophalangy
HP:0030837Finger pain
HP:0046505Hand pain
http://purl.obolibrary.org/obo/UBERON_0003396mesentery of colon
HP:0030838Hip pain
HP:0030839Knee pain
HP:0012514Lower limb pain
http://purl.obolibrary.org/obo/UBERON_0003398mesentery of jejunum
HP:0030833Neck pain
HP:0046506Pain in head and neck region
HP:0003216Generalized amyloid deposition
HP:0011034Amyloidosis
HP:0005877Multiple small vertebral fractures
HP:0005878Enlarged sagittal diameter of the cervical canal
HP:0030834Shoulder pain
HP:0005879Congenital finger flexion contractures
HP:0100490Camptodactyly of finger
HP:0006261Abnormal phalangeal joint morphology of the hand
HP:0012385Camptodactyly
HP:0001220Interphalangeal joint contracture of finger
HP:0012785Flexion contracture of finger
HP:0009473Contracture of hand joint
HP:0009810Abnormality of upper limb joint
HP:0100360Contractures of the joints of the upper limbs
HP:0002803Congenital contracture
HP:0030835Elbow pain
HP:0003218Oroticaciduria
HP:0030836Wrist pain
HP:0012513Upper limb pain
HP:0009763Limb pain
HP:0003217Hyperglutaminemia
HP:0010903Abnormal circulating glutamine concentration
HP:0005873Polysyndactyly of hallux
HP:0001841Preaxial foot polydactyly
HP:0001844Abnormality of the hallux
HP:0100258Preaxial polydactyly
HP:0003212Increased circulating IgE level
HP:0410241Abnormal circulating IgE level
HP:0030830Crackles
HP:0005875Increased dermatoglyphic whorls
HP:0001018Abnormal palmar dermatoglyphics
HP:0007477Abnormal dermatoglyphics
HP:0030831Rhonchi
HP:0003214Prolonged G2 phase of cell cycle
HP:0011018Abnormality of the cell cycle
http://purl.obolibrary.org/obo/UBERON_0003390mesothelium of pleural cavity
HP:0005876Progressive flexion contractures
HP:0030832Vitreous strands
HP:0100832Vitreous floaters
HP:0004327Abnormal vitreous humor morphology
HP:0000504Abnormality of vision
HP:0012373Abnormal eye physiology
HP:0003213Deficient excision of UV-induced pyrimidine dimers in DNA
HP:0003254Abnormality of DNA repair
http://purl.obolibrary.org/obo/UBERON_0005989atrioventricular septum
http://purl.obolibrary.org/obo/UBERON_0002099cardiac septum
http://purl.obolibrary.org/obo/UBERON_0005988atrium myocardial trabecula
http://purl.obolibrary.org/obo/UBERON_0005985coronary vessel
HP:0040218Reduced natural killer cell count
HP:0040219Absent natural killer cells
HP:0500033Abnormal natural killer subset distribution
HP:0040089Abnormal natural killer cell count
HP:0040088Abnormal lymphocyte count
HP:0012176Abnormal natural killer cell morphology
http://purl.obolibrary.org/obo/UBERON_0003325mesenchyme of pinna
HP:0040216Hypoinsulinemia
http://purl.obolibrary.org/obo/UBERON_0003326mesenchyme of mammary gland
HP:0040217Elevated hemoglobin A1c
HP:0011902Abnormal hemoglobin
http://purl.obolibrary.org/obo/UBERON_0003327mesenchyme of forearm
http://purl.obolibrary.org/obo/UBERON_0003328mesenchyme of footplate
http://purl.obolibrary.org/obo/UBERON_0010377mesenchyme from somatopleure
HP:0040215Abnormal circulating insulin level
HP:0040214Abnormal insulin level
http://purl.obolibrary.org/obo/UBERON_0003329submucosa of anal canal
HP:0040212Risus sardonicus
HP:0005324Disturbance of facial expression
HP:0005346Abnormal facial expression
HP:0040213Hypopnea
HP:0040210Abnormal circulating biopterin concentration
HP:0040211Abnormal skin morphology of the palm
HP:0100871Abnormality of the palm
HP:0011356Regional abnormality of skin
http://purl.obolibrary.org/obo/GO_0032592integral component of mitochondrial membrane
http://purl.obolibrary.org/obo/GO_0031301integral component of organelle membrane
http://purl.obolibrary.org/obo/GO_0016021integral component of membrane
http://purl.obolibrary.org/obo/GO_0098573intrinsic component of mitochondrial membrane
http://purl.obolibrary.org/obo/GO_0031300intrinsic component of organelle membrane
http://purl.obolibrary.org/obo/GO_0031224intrinsic component of membrane
http://purl.obolibrary.org/obo/UBERON_0003320mesenchyme of hip
http://purl.obolibrary.org/obo/UBERON_0003321mesenchyme of knee
http://purl.obolibrary.org/obo/UBERON_0003860hindlimb mesenchyme
http://purl.obolibrary.org/obo/GO_0032594protein transport within lipid bilayer
http://purl.obolibrary.org/obo/GO_0051668localization within membrane
http://purl.obolibrary.org/obo/GO_0006886intracellular protein transport
http://purl.obolibrary.org/obo/GO_0015031protein transport
http://purl.obolibrary.org/obo/GO_0045184establishment of protein localization
http://purl.obolibrary.org/obo/GO_0008104protein localization
http://purl.obolibrary.org/obo/GO_0033036macromolecule localization
http://purl.obolibrary.org/obo/GO_0046907intracellular transport
http://purl.obolibrary.org/obo/GO_0051649establishment of localization in cell
http://purl.obolibrary.org/obo/GO_0051641cellular localization
http://purl.obolibrary.org/obo/GO_0061024membrane organization
http://purl.obolibrary.org/obo/UBERON_0003322mesenchyme of shoulder
http://purl.obolibrary.org/obo/CHEBI_36544sialodiosylceramide
http://purl.obolibrary.org/obo/CHEBI_28892ganglioside
HP:0030891Periventricular white matter hyperdensities
HP:0030892Deep cerebral white matter hyperdensities
HP:0030894Insufficient response to short acting pulmonary vasodilator
HP:0030893Abnormal response to short acting pulmonary vasodilator
http://purl.obolibrary.org/obo/UBERON_0005998tricuspid valve cusp
http://purl.obolibrary.org/obo/UBERON_0005484tricuspid valve leaflet
http://purl.obolibrary.org/obo/UBERON_0011741cardiac valve leaflet
http://purl.obolibrary.org/obo/UBERON_0005997tricuspid valve anulus
http://purl.obolibrary.org/obo/UBERON_0005996mitral valve cusp
http://purl.obolibrary.org/obo/UBERON_0003334serosa of rectum
HP:0040229Decreased level of thrombomodulin
http://purl.obolibrary.org/obo/UBERON_0003335serosa of colon
http://purl.obolibrary.org/obo/UBERON_0001209serosa of large intestine
HP:0040227Decreased level of histidine-rich glycoprotein
http://purl.obolibrary.org/obo/UBERON_0003337serosa of jejunum
HP:0040228Decreased level of plasminogen
HP:0032312Decreased circulating globulin level
HP:0032179Abnormal circulating globulin level
http://purl.obolibrary.org/obo/UBERON_0003338ganglion of peripheral nervous system
HP:0040225Decrease in high molecular weight von Willebrand factor Multimers
HP:0030131Abnormal von Willebrand factor multimer distribution
http://purl.obolibrary.org/obo/UBERON_0003339ganglion of central nervous system
http://purl.obolibrary.org/obo/UBERON_0000045ganglion
http://purl.obolibrary.org/obo/UBERON_0010001cell cluster organ
http://purl.obolibrary.org/obo/UBERON_0034922cell cluster
HP:0040226Decreased level of heparin co-factor II
HP:0040223Pulmonary hemorrhage
HP:0040221Hypoplasia of the dental root
HP:0040222Maternal thrombophilia
HP:0002686Prenatal maternal abnormality
HP:0040220Abnormal size of the dental root
HP:0006486Abnormality of the dental root
HP:0006482Abnormality of dental morphology
http://purl.obolibrary.org/obo/UBERON_0003330submucosa of rectum
http://purl.obolibrary.org/obo/UBERON_0003331submucosa of colon
http://purl.obolibrary.org/obo/UBERON_0001208submucosa of large intestine
http://purl.obolibrary.org/obo/UBERON_0003332submucosa of duodenum
http://purl.obolibrary.org/obo/UBERON_0003333submucosa of jejunum
http://purl.obolibrary.org/obo/UBERON_0001205submucosa of small intestine
http://purl.obolibrary.org/obo/UBERON_0009566intestinal submucosa
http://purl.obolibrary.org/obo/UBERON_0018257submucosa of digestive tract
http://purl.obolibrary.org/obo/UBERON_0000009submucosa
http://purl.obolibrary.org/obo/UBERON_0005995mitral valve anulus
HP:0030899Pruritis on hand
http://purl.obolibrary.org/obo/UBERON_0005994chorda tendineae
http://purl.obolibrary.org/obo/UBERON_0005983heart layer
http://purl.obolibrary.org/obo/UBERON_0005993pulmonary valve anulus
http://purl.obolibrary.org/obo/UBERON_0005992pulmonary valve cusp
http://purl.obolibrary.org/obo/UBERON_0005991aortic valve anulus
http://purl.obolibrary.org/obo/UBERON_0006008fibrous ring of heart
http://purl.obolibrary.org/obo/UBERON_0006444annulus fibrosus
http://purl.obolibrary.org/obo/UBERON_0001995fibrocartilage
http://purl.obolibrary.org/obo/UBERON_0002418cartilage tissue
http://purl.obolibrary.org/obo/UBERON_0005990aortic valve cusp
http://purl.obolibrary.org/obo/UBERON_0006009cusp of cardiac valve
HP:0030897Decreased intestinal transit time
HP:0030896Abnormal gastrointestinal transit time
HP:0030898Pruritis on abdomen
HP:0030880Raynaud phenomenon
HP:0030881Shoulder impingement
HP:0003043Abnormality of the shoulder
http://purl.obolibrary.org/obo/PR_000048798PR:000048798 located_in GO:0005789
http://purl.obolibrary.org/obo/PR_000018628urokinase plasminogen activator surface receptor, signal peptide removed form
http://purl.obolibrary.org/obo/PR_Q03405urokinase plasminogen activator surface receptor (human)
http://purl.obolibrary.org/obo/PR_000001969urokinase plasminogen activator surface receptor
HP:0030882Coronary artery aneurysm
HP:0006704Abnormal coronary artery morphology
HP:0011004Abnormal systemic arterial morphology
HP:0030883Femoroacetabular impingement
http://purl.obolibrary.org/obo/UBERON_0003346mucosa of rectum
http://purl.obolibrary.org/obo/CHEBI_24583hexitol
http://purl.obolibrary.org/obo/CHEBI_17522alditol
http://purl.obolibrary.org/obo/CHEBI_16646carbohydrate
http://purl.obolibrary.org/obo/CHEBI_26191polyol
http://purl.obolibrary.org/obo/UBERON_0003342mucosa of anal canal
http://purl.obolibrary.org/obo/UBERON_0001207mucosa of large intestine
http://purl.obolibrary.org/obo/UBERON_0001242intestinal mucosa
http://purl.obolibrary.org/obo/UBERON_0004786gastrointestinal system mucosa
http://purl.obolibrary.org/obo/UBERON_0003343mucosa of oral region
http://purl.obolibrary.org/obo/UBERON_0003729mouth mucosa
http://purl.obolibrary.org/obo/UBERON_0000344mucosa
HP:0030888C3 nephritic factor positivity
HP:0030889Congenital shortened small intestine
http://purl.obolibrary.org/obo/UBERON_0015329respiratory system basement membrane
HP:0030884Gastrojejunal tube feeding in infancy
HP:0008872Feeding difficulties in infancy
HP:0030885Recurrent parasitic infections
HP:0020108Unusual parasitic infection
HP:0030887Increased lymphocyte apoptosis
HP:0030886Abnormal lymphocyte apoptosis
HP:0030871Facet joint arthrosis
HP:0030870Abnormality of spinal facet joint
HP:0030872Abnormal cardiac ventricular function
HP:0040209Decreased CSF biopterin level
http://purl.obolibrary.org/obo/UBERON_0003356epithelium of nasal septum
http://purl.obolibrary.org/obo/UBERON_0019306nose epithelium
http://purl.obolibrary.org/obo/UBERON_0003357epithelium of tongue
HP:0040208Elevated CSF biopterin level
HP:0040207Abnormal CSF biopterin level
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11763TFRC (human)
http://purl.obolibrary.org/obo/UBERON_0003358epithelium of soft palate
HP:0040205Decreased CSF neopterin level
http://purl.obolibrary.org/obo/UBERON_0003359epithelium of submandibular gland
http://purl.obolibrary.org/obo/UBERON_0004809salivary gland epithelium
HP:0040206Abnormal circulating neopterin concentration
http://purl.obolibrary.org/obo/CHEBI_48540beta-adrenergic drug
http://purl.obolibrary.org/obo/CHEBI_37962adrenergic agent
HP:0040204Elevated CSF neopterin level
HP:0040203Abnormal CSF neopterin level
HP:0040201Simultanapraxia
HP:0040202Abnormal consumption behavior
HP:0040200Motor impersistence
HP:0011443Abnormality of coordination
http://purl.obolibrary.org/obo/UBERON_0003354epithelium of rectum
http://purl.obolibrary.org/obo/UBERON_0016885epithelium of terminal part of digestive tract
http://purl.obolibrary.org/obo/UBERON_0001278epithelium of large intestine
http://purl.obolibrary.org/obo/UBERON_0001277intestinal epithelium
http://purl.obolibrary.org/obo/UBERON_0003350epithelium of mucosa
http://purl.obolibrary.org/obo/UBERON_0004808gastrointestinal system epithelium
HP:0030877Reduced FEV1/FVC ratio
HP:0032340Abnormal spirometry test
HP:0006536Pulmonary obstruction
HP:0030878Abnormality on pulmonary function testing
HP:0030879Interlobular septal thickening on pulmonary HRCT
HP:0025389Pulmonary interstitial high-resolution computed tomography abnormality
HP:0031983Abnormal pulmonary thoracic imaging finding
HP:0030873Anticentromere antibody positivity
HP:0030874Oxygen desaturation on exertion
HP:0012418Hypoxemia
HP:0030876Increased pulmonary capillary wedge pressure
http://purl.obolibrary.org/obo/UBERON_0005945neurocranial trabecula
http://purl.obolibrary.org/obo/UBERON_0000440trabecula
http://purl.obolibrary.org/obo/UBERON_0003932cartilage element of chondrocranium
http://purl.obolibrary.org/obo/UBERON_0005944axial skeleton plus cranial skeleton
HP:0040258Hypoplastic nasopharyngeal adenoids
HP:0040259Aplastic nasopharyngeal adenoids
HP:0030813Absent tonsils
HP:0040256Aplastic/Hypoplastic nasopharyngeal adenoids
HP:0040254Decreased size of the clitoris
HP:0003262Smooth muscle antibody positivity
HP:0040255Aplasia/Hypoplasia of the clitoris
HP:0003265Neonatal hyperbilirubinemia
HP:0002904Hyperbilirubinemia
HP:0003264Deficiency of N-acetylglucosamine-1-phosphotransferase
HP:0004356Abnormality of lysosomal metabolism
HP:0040253Increased size of the clitoris
HP:0040252Abnormal size of the clitoris
HP:0040250Reduced prothrombin antigen
HP:0040251Hand dimple
HP:0010781Skin dimple
HP:0011355Localized skin lesion
HP:0003261Increased circulating IgA level
HP:0003260Hydroxyprolinemia
HP:0010907Abnormal circulating proline concentration
HP:0003267Reduced orotidine 5-prime phosphate decarboxylase level
HP:0003269Sudanophilic leukodystrophy
HP:0002415Leukodystrophy
HP:0003268Argininuria
http://purl.obolibrary.org/obo/UBERON_0005956outflow part of left ventricle
http://purl.obolibrary.org/obo/UBERON_0005953outflow part of right ventricle
http://purl.obolibrary.org/obo/UBERON_0005337outflow tract of ventricle
HP:0040269Blocked Eustachian tube
HP:0040115Abnormality of the Eustachian tube
http://purl.obolibrary.org/obo/CHEBI_24599histidine derivative
http://purl.obolibrary.org/obo/CHEBI_83821amino acid derivative
HP:0040267Distal upper limb muscle hypertrophy
HP:0040268Recurrent infections of the middle ear
HP:0002719Recurrent infections
HP:0032101Unusual infection
HP:0003274Hypoplastic acetabulae
HP:0003170Abnormality of the acetabulum
HP:0001384Abnormality of the hip joint
HP:0009816Lower limb undergrowth
HP:0006493Aplasia/hypoplasia involving bones of the lower limbs
HP:0003273Hip contracture
HP:0008800Limited hip movement
HP:0001376Limitation of joint mobility
HP:0040266Proximal upper limb muscle hypertrophy
HP:0040265Upper limb muscle hypertrophy
HP:0003712Skeletal muscle hypertrophy
HP:0003276Pelvic bone exostoses
HP:0100777Exostoses
HP:0010622Neoplasm of the skeletal system
HP:0040263Jaw ankylosis
HP:0003275Narrow pelvis bone
http://purl.obolibrary.org/obo/CHEBI_48560dopaminergic agent
HP:0040264Jaw pain
HP:0003270Abdominal distention
HP:0040261Increased size of nasopharyngeal adenoids
HP:0030812Enlarged tonsils
HP:0040262Glue ear
HP:0000370Abnormality of the middle ear
HP:0003271Visceromegaly
HP:0001438Abnormality of abdomen morphology
HP:0040260Decreased size of nasopharyngeal adenoids
HP:0040257Abnormal size of nasopharyngeal adenoids
HP:3000033Abnormality of nasopharyngeal adenoids
HP:0001739Abnormality of the nasopharynx
HP:0100765Abnormality of the tonsils
HP:0000600Abnormality of the pharynx
HP:0003278Square pelvis bone
HP:0003277Constricted iliac wings
HP:0011867Abnormality of the wing of the ilium
HP:0002867Abnormality of the ilium
HP:0003279Coxa magna
http://purl.obolibrary.org/obo/UBERON_0005969eye trabecular meshwork
http://purl.obolibrary.org/obo/UBERON_0005966outflow part of left atrium
http://purl.obolibrary.org/obo/UBERON_0005965outflow part of right atrium
http://purl.obolibrary.org/obo/UBERON_0005946outflow tract of atrium
http://purl.obolibrary.org/obo/UBERON_0004145outflow tract
http://purl.obolibrary.org/obo/UBERON_0003301roof plate of diencephalon
http://purl.obolibrary.org/obo/CHEBI_48578radical scavenger
http://purl.obolibrary.org/obo/CHEBI_22586antioxidant
http://purl.obolibrary.org/obo/CHEBI_51086chemical role
http://purl.obolibrary.org/obo/UBERON_0003302roof plate of metencephalon
http://purl.obolibrary.org/obo/UBERON_0003303roof plate of medulla oblongata
HP:0040238Impaired neutrophil chemotaxis
HP:0005400Reduction of neutrophil motility
HP:0011990Abnormality of neutrophil physiology
http://purl.obolibrary.org/obo/CHEBI_73558D3 vitamins
http://purl.obolibrary.org/obo/CHEBI_27300vitamin D
http://purl.obolibrary.org/obo/UBERON_0003304mesoderm blood island
http://purl.obolibrary.org/obo/UBERON_0007503epithelial vesicle
http://purl.obolibrary.org/obo/UBERON_0003061blood island
HP:0040239Increased plasma vitamin K epoxide after vitamin K supplementation
HP:0040236Hyperfibrinolysis
HP:0040237Impaired binding of factor VIII to VWF
HP:0040234Factor XIII subunit B deficiency
HP:0040235Leukocyte inclusion bodies
HP:0008264Neutrophil inclusion bodies
HP:0011992Abnormality of neutrophil morphology
HP:0040232Delayed onset bleeding
HP:0040233Factor XIII subunit A deficiency
HP:0008357Reduced factor XIII activity
HP:0040230Decreased level of tissue plasminogen activator
HP:0003286Cystathioninemia
HP:0004339Abnormal circulating sulfur amino acid concentration
HP:0040231Abnormal onset of bleeding
HP:0003281Increased serum ferritin
HP:0040133Abnormal serum ferritin
HP:0003282Low alkaline phosphatase
HP:0004379Abnormality of alkaline phosphatase level
http://purl.obolibrary.org/obo/UBERON_0003300roof plate of telencephalon
HP:0003288Mitochondrial propionyl-CoA carboxylase defect
http://purl.obolibrary.org/obo/UBERON_0005979crista terminalis
http://purl.obolibrary.org/obo/UBERON_0003312mesenchyme of testis
http://purl.obolibrary.org/obo/UBERON_0003314eye mesenchyme
HP:0040249Reduced plasminogen activator inhibitor 1 antigen
http://purl.obolibrary.org/obo/UBERON_0003315mesenchyme of ovary
http://purl.obolibrary.org/obo/UBERON_0003855gonad mesenchyme
http://purl.obolibrary.org/obo/UBERON_0003316mesenchyme of yolk sac
HP:0040247Reduced euglobulin clot lysis time
http://purl.obolibrary.org/obo/CHEBI_73541organic heterobicyclic ring
http://purl.obolibrary.org/obo/CHEBI_52845cyclic organic group
HP:0040248Reduced plasminogen activator inhibitor 1 activity
http://purl.obolibrary.org/obo/UBERON_0003318mesenchyme of elbow
HP:0040245Reduced alpha-2-antiplasmin activity
http://purl.obolibrary.org/obo/UBERON_0003319mesenchyme of carpal region
http://purl.obolibrary.org/obo/UBERON_0003859forelimb mesenchyme
http://purl.obolibrary.org/obo/UBERON_0009749limb mesenchyme
HP:0040246Reduced antithrombin antigen
HP:0040243Prolonged euglobulin clot lysis time
HP:0040224Abnormality of fibrinolysis
HP:0003296Hyperthreoninuria
HP:0040244Prolonged Russell's viper venom time
HP:0010990Abnormality of the common coagulation pathway
HP:0003298Spina bifida occulta
HP:0002414Spina bifida
HP:0010301Spinal dysraphism
HP:0008438Vertebral arch anomaly
HP:0045005Neural tube defect
HP:0040241Increased RIPA
HP:0030402Abnormal platelet aggregation
HP:0011869Abnormal platelet function
HP:0003297Hyperlysinuria
HP:0008339Diaminoaciduria
HP:0040242Muscle hemorrhage
HP:0003292Decreased serum leptin
HP:0004361Abnormality of circulating leptin level
HP:0040240Increased ratio of VWF propeptide to VWF antigen
HP:0012146Abnormality of von Willebrand factor
http://purl.obolibrary.org/obo/UBERON_0005971amniotic fold
http://purl.obolibrary.org/obo/UBERON_0005970brain commissure
http://purl.obolibrary.org/obo/UBERON_0007702tract of brain
http://purl.obolibrary.org/obo/UBERON_0001020nervous system commissure
http://purl.obolibrary.org/obo/UBERON_0001018axon tract
http://purl.obolibrary.org/obo/GO_0032504multicellular organism reproduction
http://purl.obolibrary.org/obo/GO_0000003reproduction
http://purl.obolibrary.org/obo/UBERON_0005903duct of seminal vesicle
http://purl.obolibrary.org/obo/UBERON_0005904duct of male reproductive system
http://purl.obolibrary.org/obo/UBERON_0000058duct
http://purl.obolibrary.org/obo/UBERON_0000063organ subunit
http://purl.obolibrary.org/obo/UBERON_0005902occipital region
http://purl.obolibrary.org/obo/PR_000009127integrin alpha-IIb
http://purl.obolibrary.org/obo/PR_000025797integrin alpha lacking A domain
http://purl.obolibrary.org/obo/PR_000025796integrin alpha
http://purl.obolibrary.org/obo/UBERON_0005908conjunctival sac
http://purl.obolibrary.org/obo/UBERON_0005906serous sac
HP:0040179Decreased level of platelet-activating factor
HP:0040178Increased level of platelet-activating factor
HP:0040177Abnormal level of platelet-activating factor
HP:0040175Platelet-activating factor acetylhydrolase deficiency
HP:0040176Abnormal circulating phospholipid concentration
HP:0040174Abnormality of extrinsic muscle of tongue
HP:0040173Abnormality of the tongue muscle
HP:0040171Decreased serum testosterone level
HP:0030349Decreased circulating androgen level
HP:0030087Abnormal serum testosterone level
HP:0008373Puberty and gonadal disorders
HP:0030347Abnormal circulating androgen level
HP:0040172Abnormality of occipitofrontalis muscle
http://purl.obolibrary.org/obo/GO_0007565female pregnancy
http://purl.obolibrary.org/obo/GO_0007567parturition
HP:0040188Osteochondrosis
HP:0100323Juvenile aseptic necrosis
HP:0010885Avascular necrosis
HP:0040186Maculopapular exanthema
HP:0040187Neonatal sepsis
HP:0100806Sepsis
HP:0040184Oral bleeding
HP:0011029Internal hemorrhage
HP:0011028Abnormality of blood circulation
HP:0001892Abnormal bleeding
HP:0031815Abnormal oral physiology
HP:0040185Macrothrombocytopenia
HP:0001873Thrombocytopenia
HP:0011873Abnormal platelet count
HP:0011877Increased mean platelet volume
HP:0011876Abnormal platelet volume
HP:0011875Abnormal platelet morphology
HP:0001872Abnormal thrombocyte morphology
HP:0040182Inappropriate sinus tachycardia
HP:0011703Sinus tachycardia
HP:0011702Abnormal electrophysiology of sinoatrial node origin
HP:0011675Arrhythmia
HP:0040183Encopresis
HP:0002607Bowel incontinence
HP:0012700Abnormal large intestine physiology
HP:0031064Impaired continence
HP:0031058Impairment of activities of daily living
HP:0040180Hyperkeratosis pilaris
HP:0000962Hyperkeratosis
HP:0040181Chapped lip
http://purl.obolibrary.org/obo/GO_0007596blood coagulation
http://purl.obolibrary.org/obo/GO_0050817coagulation
http://purl.obolibrary.org/obo/GO_0007598blood coagulation, extrinsic pathway
http://purl.obolibrary.org/obo/GO_0007597blood coagulation, intrinsic pathway
http://purl.obolibrary.org/obo/GO_0072376protein activation cascade
HP:0040159Abnormal spaced incisors
HP:0011062Misalignment of incisors
HP:0000676Abnormality of the incisor
HP:0000692Misalignment of teeth
HP:0000164Abnormality of the dentition
http://purl.obolibrary.org/obo/GO_0007599hemostasis
http://purl.obolibrary.org/obo/CHEBI_24500heparan
http://purl.obolibrary.org/obo/CHEBI_18085glycosaminoglycan
http://purl.obolibrary.org/obo/CHEBI_22506aminoglycan
http://purl.obolibrary.org/obo/CHEBI_65212polysaccharide derivative
http://purl.obolibrary.org/obo/UBERON_0005928external naris
http://purl.obolibrary.org/obo/UBERON_0000003naris
http://purl.obolibrary.org/obo/UBERON_0000161orifice
HP:0040158Short intermamillary distance
HP:0040157Abnormal intermamillary distance
HP:0004404Abnormal nipple morphology
HP:0031093Abnormal breast morphology
HP:0000769Abnormality of the breast
HP:0040155Elevated urinary 3-hydroxybutyric acid
HP:0040154Acne inversa
HP:0001061Acne
HP:0040151Epiblepharon of lower lid
HP:0040150Epiblepharon of upper lid
HP:0011225Epiblepharon
http://purl.obolibrary.org/obo/GO_0007585respiratory gaseous exchange by respiratory system
http://purl.obolibrary.org/obo/GO_0007586digestion
http://purl.obolibrary.org/obo/GO_0007589body fluid secretion
http://purl.obolibrary.org/obo/GO_0007588excretion
http://purl.obolibrary.org/obo/GO_0003008system process
HP:0040168Focal seizures, afebril
HP:0007359Focal-onset seizure
HP:0001250Seizure
HP:0040169Loose anagen hair
HP:0040170Abnormality of hair growth
HP:0040167Facial papilloma
HP:0012740Papilloma
HP:0008069Neoplasm of the skin
HP:0011799Abnormality of facial soft tissue
HP:0040164Lipomas of eyelids
HP:0012032Lipoma
HP:0012031Lipomatous tumor
HP:0200013Neoplasm of fatty tissue
HP:0040165Periostitis
HP:0002754Osteomyelitis
HP:0030313Abnormal periosteum morphology
HP:0040166Abnormality of the periosteum
HP:0040162Orthokeratosis
HP:0011368Epidermal thickening
HP:0001072Skin thickening
HP:0040163Abnormal pelvis bone morphology
HP:0040160Generalized osteoporosis
HP:0040161Localized osteoporosis
HP:0000939Osteoporosis
HP:0004349Reduced bone mineral density
HP:0004348Abnormality of bone mineral density
http://purl.obolibrary.org/obo/GO_0032543mitochondrial translation
http://purl.obolibrary.org/obo/GO_0006412translation
http://purl.obolibrary.org/obo/GO_0043043peptide biosynthetic process
http://purl.obolibrary.org/obo/GO_0043604amide biosynthetic process
http://purl.obolibrary.org/obo/GO_0044271cellular nitrogen compound biosynthetic process
http://purl.obolibrary.org/obo/GO_0006518peptide metabolic process
http://purl.obolibrary.org/obo/GO_0043603cellular amide metabolic process
http://purl.obolibrary.org/obo/GO_0034641cellular nitrogen compound metabolic process
http://purl.obolibrary.org/obo/GO_0044267cellular protein metabolic process
http://purl.obolibrary.org/obo/GO_0019538protein metabolic process
http://purl.obolibrary.org/obo/GO_0034645cellular macromolecule biosynthetic process
http://purl.obolibrary.org/obo/GO_0044260cellular macromolecule metabolic process
http://purl.obolibrary.org/obo/CHEBI_36508glycotriaosylceramide
HP:0040197Encephalomalacia
HP:0040198Non-medullary thyroid carcinoma
HP:0002890Thyroid carcinoma
HP:0100031Neoplasm of the thyroid gland
http://purl.obolibrary.org/obo/CHEBI_36526acidic glycosphingolipid
HP:0040196Mild microcephaly
HP:0040195Decreased head circumference
HP:0040194Increased head circumference
HP:0000240Abnormality of skull size
HP:0040191Rectus femoris muscle atrophy
HP:0009050Quadriceps muscle atrophy
HP:0008956Proximal lower limb amyotrophy
HP:0007126Proximal amyotrophy
HP:0001441Abnormality of the musculature of the thigh
HP:0001437Abnormality of the musculature of the lower limbs
HP:0040192APUdoma
HP:0040190White scaling skin
HP:0040189Scaling skin
HP:0011124Abnormality of epidermal morphology
http://purl.obolibrary.org/obo/PR_000009143integrin beta-7
http://purl.obolibrary.org/obo/PR_000001861integrin beta
http://purl.obolibrary.org/obo/CHEBI_36520oligoglycosylceramide
http://purl.obolibrary.org/obo/CHEBI_17761ceramide
http://purl.obolibrary.org/obo/CHEBI_25513neutral glycosphingolipid
http://purl.obolibrary.org/obo/CHEBI_24402glycosphingolipid
http://purl.obolibrary.org/obo/CHEBI_26739sphingolipid
http://purl.obolibrary.org/obo/CHEBI_33563glycolipid
http://purl.obolibrary.org/obo/CHEBI_35740liposaccharide
http://purl.obolibrary.org/obo/CHEBI_63299carbohydrate derivative
http://purl.obolibrary.org/obo/CHEBI_78616carbohydrates and carbohydrate derivatives
http://purl.obolibrary.org/obo/CHEBI_24533heterodetic cyclic peptide
http://purl.obolibrary.org/obo/CHEBI_23449cyclic peptide
HP:0005807Absent distal phalanges
HP:0009835Aplasia/Hypoplasia of the distal phalanges of the hand
HP:0009832Abnormal distal phalanx morphology of finger
http://purl.obolibrary.org/obo/PR_Q9NPY3complement component C1q receptor (human)
http://purl.obolibrary.org/obo/PR_000002037complement component C1q receptor
http://purl.obolibrary.org/obo/PR_000001938thrombomodulin-like receptor
HP:0005802Coalescence of tarsal bones
HP:0008368Tarsal synostosis
HP:0001850Abnormality of the tarsal bones
HP:0003028Abnormality of the ankles
HP:0100266Synostosis of carpals/tarsals
HP:0009140Synostosis involving bones of the feet
HP:0005819Short middle phalanx of finger
HP:0009843Aplasia/Hypoplasia of the middle phalanges of the hand
HP:0003026Short long bone
HP:0009803Short phalanx of finger
HP:0009824Upper limb undergrowth
HP:0009826Limb undergrowth
HP:0009767Aplasia/Hypoplasia of the phalanges of the hand
HP:0009381Short finger
HP:0006265Aplasia/Hypoplasia of fingers
http://purl.obolibrary.org/obo/PR_P00797-1renin isoform 1 (human)
http://purl.obolibrary.org/obo/PR_000050221renin isoform 1
http://purl.obolibrary.org/obo/PR_000050224renin isoform b (human)
http://purl.obolibrary.org/obo/PR_P00797renin (human)
http://purl.obolibrary.org/obo/PR_000013883renin
http://purl.obolibrary.org/obo/PR_000050025angiotensinogenase
HP:0005815Supernumerary ribs
HP:0009144Supernumerary bones of the axial skeleton
HP:0005817Postaxial polysyndactyly of foot
HP:0001830Postaxial foot polydactyly
HP:0010322Abnormality of the 5th toe
HP:0001829Foot polydactyly
HP:0009136Duplication involving bones of the feet
HP:0100259Postaxial polydactyly
HP:0010442Polydactyly
HP:0410075Increased level of xylitol in CSF
HP:0410072Increased level of ribose in urine
HP:0410071Increased level of ribitol in CSF
HP:0410074Increased level of xylitol in urine
HP:0410073Increased level of ribose in CSF
HP:0005828Transient pulmonary infiltrates
HP:0002113Pulmonary infiltrates
HP:0005829Maldevelopment of radioulnar joint
HP:0003059Abnormality of the radioulnar joints
HP:0002973Abnormality of the forearm
HP:0005262Abnormality of the synovia
http://purl.obolibrary.org/obo/GO_0007507heart development
HP:0005824Clinodactyly of the 2nd toe
HP:0001863Toe clinodactyly
HP:0030084Clinodactyly
HP:0010326Deviation of the 2nd toe
HP:0100498Deviation of toes
HP:0010319Abnormality of the 2nd toe
HP:0005825Mixed sclerosis of humeral metaphyses
HP:0004979Metaphyseal sclerosis
HP:0003918Sclerotic humeral metaphysis
HP:0003907Abnormality of the humeral metaphyses
HP:0003063Abnormality of the humerus
HP:0001454Abnormality of the upper arm
HP:0005820Superior rib anomalies
HP:0000772Abnormality of the ribs
HP:0001547Abnormality of the rib cage
HP:0005830Flexion contracture of toe
HP:0100492Joint contractures involving the joints of the feet
HP:0008366Contractures involving the joints of the feet
HP:0005750Contractures of the joints of the lower limbs
HP:0003121Limb joint contracture
HP:0030044Flexion contracture of digit
HP:0001780Abnormality of toe
HP:0001760Abnormality of the foot
HP:0005831Type B brachydactyly
HP:0001156Brachydactyly
HP:0011927Short digit
HP:0005832Dysharmonic delayed bone age
HP:0200000Dysharmonic bone age
HP:0002750Delayed skeletal maturation
HP:0000927Abnormality of skeletal maturation
HP:0410043Abnormal neural tube morphology
HP:0410042Abnormal liver morphology
HP:0410049Abnormality of radial ray
HP:0410031Submucous cleft of soft and hard palate
HP:0410034Bilateral alveolar cleft of maxilla
http://purl.obolibrary.org/obo/GO_0007517muscle organ development
http://purl.obolibrary.org/obo/GO_0048513animal organ development
http://purl.obolibrary.org/obo/GO_0061061muscle structure development
HP:0410033Unilateral alveolar cleft of maxilla
HP:0010289Cleft of alveolar ridge of maxilla
HP:0410005Cleft hard palate
HP:0000175Cleft palate
HP:0100737Abnormal hard palate morphology
HP:0000174Abnormal palate morphology
HP:0011338Abnormality of mouth shape
HP:0006477Abnormality of the alveolar ridges
HP:0002648Abnormality of calvarial morphology
HP:0002683Abnormality of the calvaria
HP:0410030Cleft lip
HP:0000202Oral cleft
HP:0410035Abnormal T cell activation
HP:0011840Abnormality of T cell physiology
HP:0410070Increased level of ribitol in urine
HP:0410065Increased level of hippuric acid in blood
http://purl.obolibrary.org/obo/GO_0007548sex differentiation
http://purl.obolibrary.org/obo/GO_0003006developmental process involved in reproduction
HP:0410064Increased level of galactitol in red blood cells
HP:0410067Increased level of L-fucose in urine
HP:0410066Increased level of hippuric acid in urine
HP:0012073Abnormal urinary acylglycine profile
HP:0410061Increased level of galactitol in plasma
HP:0410060Decreased level of D-mannose in urine
HP:0410063Increased level of galactonate in red blood cells
HP:0410062Increased level of galactitol in urine
HP:0410069Increased level of propylene glycol in blood
HP:0410068Increased level of L-glutamic acid in blood
HP:0500148Abnormal circulating glutamate concentration
HP:0410054Decreased level of GABA in serum
http://zfin.org/action/marker/view/ZDB-GENE-041001-112kdr (zebrafish)
HP:0410053Increased level of GABA in serum
HP:0410056Decreased level of erythritol in CSF
HP:0410055Decreased level of erythritol in urine
HP:0410050Decreased level of 1,5 anhydroglucitol in serum
HP:0410052Increased level of allantoin in serum
HP:0410051Increased level of 3-hydroxy-3-methylglutaric acid in urine
HP:0410058Increased level of D-threitol in CSF
HP:0025454Abnormal CSF metabolite level
HP:0032207Abnormal cerebrospinal fluid metabolite concentration
HP:0410057Increased level of D-threitol in plasma
HP:0410059Increased level of D-threitol in urine
http://purl.obolibrary.org/obo/UBERON_0003282mesentery of heart
http://purl.obolibrary.org/obo/UBERON_0003283mesentery of oesophagus
http://purl.obolibrary.org/obo/UBERON_0001975serosa of esophagus
HP:0003341Junctional split
HP:0008066Abnormal blistering of the skin
HP:0030947Conjunctival follicles
HP:0030948Elevated gamma-glutamyltransferase level
HP:0030949Glomerular deposits
HP:0000095Abnormality of renal glomerulus morphology
HP:0012575Abnormal nephron morphology
HP:0031263Abnormal renal corpuscle morphology
http://purl.obolibrary.org/obo/UBERON_0003288meninx of midbrain
http://purl.obolibrary.org/obo/UBERON_0003289meninx of telencephalon
HP:0030943Vulvodynia
HP:0003348Hyperalaninemia
HP:0010916Abnormal circulating alanine concentration
HP:0010915Abnormal circulating pyruvate family amino acid concentration
HP:0003347Impaired lymphocyte transformation with phytohemagglutinin
HP:0004332Abnormal lymphocyte morphology
HP:0030946Conjunctival papillae
HP:0003349Low cholesterol esterification rate
HP:00033443-Methylglutaric aciduria
HP:0003215Dicarboxylic aciduria
HP:00035353-Methylglutaconic aciduria
HP:0003287Abnormality of mitochondrial metabolism
HP:0012103Abnormality of the mitochondrion
HP:0003343Reduced glutathione synthetase level
http://purl.obolibrary.org/obo/UBERON_0003281mesentery of stomach
HP:0003345Elevated urinary norepinephrine
HP:0011976Elevated urinary catecholamines
HP:0011281Abnormality of urine catecholamine concentration
HP:0003351Decreased circulating renin level
HP:0040084Abnormal circulating renin
HP:0000847Abnormality of renin-angiotensin system
http://purl.obolibrary.org/obo/UBERON_0003294gland of foregut
http://purl.obolibrary.org/obo/UBERON_0003295pharyngeal gland
http://purl.obolibrary.org/obo/UBERON_0036225respiratory system gland
http://purl.obolibrary.org/obo/UBERON_0003408gland of digestive tract
HP:0003353Propionyl-CoA carboxylase deficiency
http://purl.obolibrary.org/obo/UBERON_0003296gland of diencephalon
HP:0003352Endopolyploidy on chromosome studies of bone marrow
HP:0002916Abnormality of chromosome segregation
HP:0030936Abnormal layering of muscularis propria
HP:0030937Fibrotic muscularis propria
HP:0030938Enteric intraneuronal nuclear inclusion bodies
HP:0025029Abnormality of enteric neuron morphology
HP:0025028Abnormality of enteric nervous system morphology
HP:0012331Abnormal autonomic nervous system morphology
HP:0002270Abnormality of the autonomic nervous system
HP:0012757Abnormal neuron morphology
http://purl.obolibrary.org/obo/UBERON_0003299roof plate of midbrain
HP:0030939Palpebral thickening
HP:00309321-minute APGAR score of 5
HP:0003359Decreased urinary sulfate
HP:0012612Abnormal urinary sulfate concentration
HP:00309331-minute APGAR score of 6
HP:0003358Elevated intracellular cystine
HP:0030934Oral erythroplakia
HP:0011830Abnormal oral mucosa morphology
http://purl.obolibrary.org/obo/CHEBI_3992cyclic ketone
HP:0030935Abnormality of intestinal smooth muscle morphology
HP:0003354Hyperthreoninemia
HP:0010900Abnormal circulating threonine concentration
HP:0010899Abnormal circulating aspartate family amino acid concentration
http://purl.obolibrary.org/obo/UBERON_0003290meninx of diencephalon
http://purl.obolibrary.org/obo/UBERON_0003548forebrain meninges
HP:0003357Thymic hormone decreased
HP:0000777Abnormality of the thymus
HP:0100763Abnormality of the lymphatic system
HP:00309301-minute APGAR score of 3
http://purl.obolibrary.org/obo/UBERON_0003291meninx of hindbrain
http://purl.obolibrary.org/obo/UBERON_0003547brain meninx
http://purl.obolibrary.org/obo/UBERON_0003292meninx of spinal cord
http://purl.obolibrary.org/obo/UBERON_0005174dorsal region element
http://purl.obolibrary.org/obo/UBERON_0002360meninx
http://purl.obolibrary.org/obo/UBERON_0000094membrane organ
HP:00309311-minute APGAR score of 4
http://purl.obolibrary.org/obo/UBERON_0015280pancreas left lobe
http://purl.obolibrary.org/obo/UBERON_0015281pancreas right lobe
http://purl.obolibrary.org/obo/UBERON_0007324pancreatic lobule
HP:00309291-minute APGAR score of 2
HP:0003362Increased VLDL cholesterol concentration
HP:0010980Hyperlipoproteinemia
HP:0031889Abnormal VLDL cholesterol concentration
HP:0010979Abnormality of lipoprotein cholesterol concentration
HP:0003361Tryptophanuria
HP:0008353Neutral hyperaminoaciduria
HP:0003355Aminoaciduria
HP:0040156Elevated urinary carboxylic acid
HP:0031980Abnormal urine carboxylic acid level
HP:0001992Organic aciduria
HP:0012072Aciduria
HP:0032943Abnormal urine pH
HP:0003363Abdominal situs inversus
HP:0011620Abnormality of abdominal situs
HP:0030853Heterotaxy
HP:00309255-minute APGAR score of 5
HP:00309265-minute APGAR score of 6
HP:00309271-minute APGAR score of 0
HP:00309281-minute APGAR score of 1
HP:00309215-minute APGAR score of 1
HP:00309225-minute APGAR score of 2
HP:00309235-minute APGAR score of 3
HP:00309245-minute APGAR score of 4
HP:0003365Arthralgia of the hip
HP:00309205-minute APGAR score of 0
HP:0003367Abnormality of the femoral neck
HP:0030918Low 1-minute APGAR score
HP:0030919Low 5-minute APGAR score
HP:0003375Narrow greater sciatic notch
HP:0010456Abnormal greater sciatic notch morphology
HP:0003174Abnormality of the ischium
HP:0003272Abnormality of the hip bone
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0030914Abnormal peristalsis
HP:0002579Gastrointestinal dysmotility
HP:0030895Abnormal gastrointestinal motility
HP:0012719Functional abnormality of the gastrointestinal tract
HP:0030915Cerebellar edema
HP:0001317Abnormal cerebellum morphology
HP:0003371Enlargement of the proximal femoral epiphysis
HP:0010580Enlarged epiphyses
HP:0030917Low APGAR score
HP:0001197Abnormality of prenatal development or birth
HP:0003370Flat capital femoral epiphysis
HP:0010574Abnormality of the epiphysis of the femoral head
HP:0003368Abnormality of the femoral head
HP:0006499Abnormality of femoral epiphysis
HP:0006500Abnormality of lower limb epiphysis morphology
HP:0030289Flattened femoral epiphysis
HP:0003071Flattened epiphysis
HP:0030911Bifid clitoris
HP:0030912Duplicated clitoris
HP:0000056Abnormality of the clitoris
HP:0030913Exaggerated rugosity of the labia majora
HP:0012881Abnormality of the labia majora
HP:0000058Abnormality of the labia
HP:0000055Abnormality of female external genitalia
HP:0000811Abnormal external genitalia
HP:0003376Steppage gait
HP:0001288Gait disturbance
HP:0003378Axonal degeneration/regeneration
HP:0030980Reduced brain glutamine level by MRS
HP:0012705Abnormal metabolic brain imaging by MRS
HP:0410263Brain imaging abnormality
http://purl.obolibrary.org/obo/PR_P55284cadherin-5 (mouse)
http://purl.obolibrary.org/obo/PR_000001444cadherin-5
http://purl.obolibrary.org/obo/PR_000001327cadherin
HP:0003307Hyperlordosis
HP:0003309Ovoid thoracolumbar vertebrae
http://purl.obolibrary.org/obo/UBERON_0003247epithelium of forearm
http://purl.obolibrary.org/obo/UBERON_0003248epithelium of footplate
http://purl.obolibrary.org/obo/UBERON_0003249epithelium of otic placode
http://purl.obolibrary.org/obo/NBO_0002519adipsia
http://purl.obolibrary.org/obo/NBO_0000993decreased frequency of drinking
http://purl.obolibrary.org/obo/NBO_0000929frequency of drinking
http://purl.obolibrary.org/obo/NBO_0000133liquid preference/aversion
http://purl.obolibrary.org/obo/NBO_0000540drinking behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000270feeding behavior phenotype
http://purl.obolibrary.org/obo/NBO_0000243behavioral phenotype
http://purl.obolibrary.org/obo/UBERON_0003243epithelium of cochlear duct
http://purl.obolibrary.org/obo/UBERON_0006937inner ear epithelium
http://purl.obolibrary.org/obo/UBERON_0015807ear epithelium
http://purl.obolibrary.org/obo/UBERON_0019304sensory organ epithelium
http://purl.obolibrary.org/obo/UBERON_0003244epithelium of mammary gland
HP:0003304Spondylolysis
HP:0030987Suppurative cholangitis
HP:0030988Granulomatous cholangitis
http://purl.obolibrary.org/obo/UBERON_0015228circulatory organ
HP:0005967Mixed respiratory and metabolic acidosis
HP:0030989Lymphoid cholangitis
HP:0003306Spinal rigidity
HP:0005968Temperature instability
HP:0003305Block vertebrae
HP:0002948Vertebral fusion
HP:0005961Hypoargininemia
HP:0010909Abnormal circulating arginine concentration
HP:0010902Abnormal circulating glutamine family amino acid concentration
HP:0004337Abnormality of amino acid metabolism
HP:0003112Abnormality of serum amino acid level
HP:0003300Ovoid vertebral bodies
HP:0030983Ovarian thecoma
HP:0031918Ovarian sex cord-stromal tumor
HP:0100615Ovarian neoplasm
HP:0000137Abnormality of the ovary
HP:0010785Gonadal neoplasm
HP:0010787Genital neoplasm
HP:0007379Neoplasm of the genitourinary tract
HP:0003302Spondylolisthesis
HP:0030985Decreased serum bile concentration
HP:0045014Hypolipidemia
HP:0030984Abnormal serum bile acid concentration
HP:0005964Intermittent hypothermia
HP:0002045Hypothermia
HP:0004370Abnormality of temperature regulation
HP:0030986Biliary epithelial hyperplasia
HP:0003301Irregular vertebral endplates
HP:0005106Abnormality of the vertebral endplates
HP:0030970Abnormal vena cava physiology
http://purl.obolibrary.org/obo/UBERON_0015233nucleus of dorsal thalamus
http://purl.obolibrary.org/obo/UBERON_0007692nucleus of thalamus
http://purl.obolibrary.org/obo/UBERON_0006569diencephalic nucleus
http://purl.obolibrary.org/obo/UBERON_0002308nucleus of brain
http://purl.obolibrary.org/obo/UBERON_0000125neural nucleus
HP:0003318Cervical spine hypermobility
HP:0040308Male anorgasmia
HP:0046502Anorgasmia
HP:0040309Increased size of the mandible
HP:0000277Abnormality of the mandible
HP:0030791Abnormal jaw morphology
http://purl.obolibrary.org/obo/UBERON_0003257yolk sac endoderm
HP:0040306Decreased male libido
HP:0046504Decreased libido
http://purl.obolibrary.org/obo/UBERON_0003258endoderm of foregut
http://purl.obolibrary.org/obo/UBERON_0015833foregut epithelium
http://purl.obolibrary.org/obo/UBERON_0003259endoderm of midgut
http://purl.obolibrary.org/obo/UBERON_0003352epithelium of midgut
HP:0040304Duplication of the sella turcica
HP:0002679Abnormality of the sella turcica
HP:0011821Abnormality of facial skeleton
HP:0040305Increased male libido
HP:0046503Increased libido
HP:0031845Abnormal libido
HP:0040307Male sexual dysfunction
HP:0040302Hyperglycerolemia
HP:0031795Abnormal circulating glycerol level
HP:0040303Decreased serum iron
HP:0040301Increased urinary glycerol
HP:0031979Abnormal urine carbohydrate level
http://purl.obolibrary.org/obo/UBERON_0003252thoracic rib cage
http://purl.obolibrary.org/obo/UBERON_0003253neck of rib
http://purl.obolibrary.org/obo/UBERON_0005055zone of long bone
http://purl.obolibrary.org/obo/UBERON_0003254amniotic ectoderm
HP:0005976Hyperkalemic metabolic acidosis
HP:0030977Increased factor VIII activity
HP:0030976Abnormal factor VIII activity
HP:0010989Abnormality of the intrinsic pathway
HP:0005977Hypochloremic metabolic alkalosis
HP:0001948Alkalosis
HP:0005978Type II diabetes mellitus
HP:0000819Diabetes mellitus
HP:0030978Decreased CSF/serum albumin ratio
HP:0030981Abnormal CSF/serum albumin ratio
http://purl.obolibrary.org/obo/UBERON_0015238pineal complex
HP:0005979Metabolic ketoacidosis
HP:0001942Metabolic acidosis
HP:0030979Dilatation of large choroidal vessels
HP:0025568Abnormal morphology of the choroidal vasculature
HP:0003316Butterfly vertebrae
HP:0005972Respiratory acidosis
HP:0030972Abnormal systemic blood pressure
HP:0003311Hypoplasia of the odontoid process
HP:0008518Aplasia/Hypoplasia involving the vertebral column
HP:0009122Aplasia/hypoplasia affecting bones of the axial skeleton
HP:0003310Abnormality of the odontoid process
HP:0005973Fructose intolerance
HP:0011033Impairment of fructose metabolism
HP:0032245Abnormal metabolism
HP:0030973Postexertional malaise
HP:0012378Fatigue
HP:0005974Episodic ketoacidosis
HP:0001993Ketoacidosis
HP:0001941Acidosis
HP:0004360Abnormality of acid-base homeostasis
HP:0001946Ketosis
HP:0030974Cryptozoospermia
HP:0000798Oligospermia
HP:0008669Abnormal spermatogenesis
HP:0000025Functional abnormality of male internal genitalia
HP:0012874Abnormal male reproductive system physiology
HP:0000080Abnormality of reproductive system physiology
HP:0030975Pontine tegmental cap
HP:0007361Abnormality of the pons
HP:0002363Abnormality of brainstem morphology
HP:0011283Abnormality of the metencephalon
HP:0011282Abnormality of hindbrain morphology
HP:0003329Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
http://purl.obolibrary.org/obo/UBERON_0003269skeletal muscle tissue of eye
http://purl.obolibrary.org/obo/UBERON_0001134skeletal muscle tissue
http://purl.obolibrary.org/obo/UBERON_0002036striated muscle tissue
http://purl.obolibrary.org/obo/UBERON_0002385muscle tissue
http://purl.obolibrary.org/obo/UBERON_0003260endoderm of hindgut
http://purl.obolibrary.org/obo/UBERON_0003353epithelium of hindgut
http://purl.obolibrary.org/obo/UBERON_0003261thyroid primordium endoderm
http://purl.obolibrary.org/obo/UBERON_0000925endoderm
http://purl.obolibrary.org/obo/UBERON_0003262amniotic mesoderm
HP:0003320C1-C2 subluxation
HP:0003308Cervical subluxation
HP:0032153Joint subluxation
HP:0001373Joint dislocation
HP:0008440C1-C2 vertebral abnormality
HP:0005982Reduced phenylalanine hydroxylase level
HP:0012379Abnormal enzyme/coenzyme activity
HP:0030969Abnormal pulmonary vein physiology
HP:0030846Abnormality of venous physiology
http://purl.obolibrary.org/obo/UBERON_0003265chorionic mesenchyme
http://purl.obolibrary.org/obo/UBERON_0010333extraembryonic membrane mesenchyme
http://purl.obolibrary.org/obo/UBERON_0000478extraembryonic structure
http://purl.obolibrary.org/obo/UBERON_0003267tooth of upper jaw
HP:0005987Multinodular goiter
HP:0003326Myalgia
HP:0030965Aortic stiffness
HP:0005988Congenital muscular torticollis
HP:0011006Abnormal morphology of the musculature of the neck
HP:0030966Abnormal pulmonary artery morphology
HP:0005989Redundant neck skin
HP:0001582Redundant skin
HP:0000973Cutis laxa
HP:0008067Abnormally lax or hyperextensible skin
HP:0010647Abnormal elasticity of skin
HP:0003328Abnormal hair laboratory examination
HP:0030967Abnormal pulmonary artery physiology
HP:0004414Abnormality of the pulmonary artery
http://purl.obolibrary.org/obo/UBERON_0015249digit skin
http://purl.obolibrary.org/obo/UBERON_0015790autopod skin
http://purl.obolibrary.org/obo/UBERON_0001419skin of limb
http://purl.obolibrary.org/obo/UBERON_0000014zone of skin
HP:0030968Abnormal pulmonary vein morphology
HP:0002624Abnormal venous morphology
HP:0011718Abnormality of the pulmonary veins
HP:0003327Axial muscle weakness
HP:0030961Microspherophakia
HP:0008063Aplasia/Hypoplasia of the lens
HP:0000517Abnormality of the lens
HP:0008062Aplasia/Hypoplasia affecting the anterior segment of the eye
HP:0007700Ocular anterior segment dysgenesis
HP:0000593Abnormal anterior chamber morphology
HP:0004328Abnormal anterior eye segment morphology
HP:0008056Aplasia/Hypoplasia affecting the eye
HP:0005984Elevated maternal serum alpha-fetoprotein
HP:0006254Elevated alpha-fetoprotein
HP:0045056Abnormal levels of alpha-fetoprotein
HP:0030962Abnormal morphology of the great vessels
HP:0003321Biconcave flattened vertebrae
HP:0000926Platyspondyly
HP:0004586Biconcave vertebral bodies
HP:0003324Generalized muscle weakness
HP:0030964Abnormal aortic physiology
HP:0025323Abnormal arterial physiology
HP:0003323Progressive muscle weakness
http://purl.obolibrary.org/obo/UBERON_0015251modified sebaceous gland
http://purl.obolibrary.org/obo/UBERON_0001821sebaceous gland
http://purl.obolibrary.org/obo/UBERON_0012344holocrine gland
http://purl.obolibrary.org/obo/UBERON_0007771epidermis gland
http://purl.obolibrary.org/obo/UBERON_0002419skin gland
http://purl.obolibrary.org/obo/UBERON_0019319exocrine gland of integumental system
http://purl.obolibrary.org/obo/UBERON_0002365exocrine gland
http://purl.obolibrary.org/obo/UBERON_0003297gland of integumental system
http://purl.obolibrary.org/obo/UBERON_0003279endothelium of trachea
http://purl.obolibrary.org/obo/UBERON_0001901epithelium of trachea
http://purl.obolibrary.org/obo/UBERON_0004815lower respiratory tract epithelium
http://purl.obolibrary.org/obo/UBERON_0004802respiratory tract epithelium
http://purl.obolibrary.org/obo/UBERON_0010499pseudostratified ciliated columnar epithelium
http://purl.obolibrary.org/obo/UBERON_0010498pseudostratified columnar epithelium
http://purl.obolibrary.org/obo/UBERON_0007592ciliated columnar epithelium
http://purl.obolibrary.org/obo/UBERON_0000485simple columnar epithelium
http://purl.obolibrary.org/obo/UBERON_0012274columnar epithelium
http://purl.obolibrary.org/obo/UBERON_0007601ciliated epithelium
http://purl.obolibrary.org/obo/UBERON_0001986endothelium
HP:0005990Thyroid hypoplasia
HP:0008188Thyroid dysgenesis
HP:0005991Limited neck flexion
HP:0030958Membranous ventricular septal aneurysm
HP:0030959Muscular ventricular septal aneurysm
http://purl.obolibrary.org/obo/UBERON_0003277skeleton of upper jaw
http://purl.obolibrary.org/obo/UBERON_0003278skeleton of lower jaw
HP:0003337Reduced prothrombin consumption
HP:0012200Abnormality of prothrombin
HP:0003256Abnormality of the coagulation cascade
HP:0001928Abnormality of coagulation
HP:0005999Ureteral atresia
HP:0025633Abnormal ureter morphology
HP:0000069Abnormality of the ureter
HP:0000809Urinary tract atresia
HP:0030955Alcoholism
HP:0030858Addictive behavior
HP:0003336Abnormal enchondral ossification
HP:0011849Abnormal bone ossification
HP:0030956Abnormality of cardiovascular system electrophysiology
HP:0003339Pyrimidine-responsive megaloblastic anemia
HP:0001889Megaloblastic anemia
HP:0001972Macrocytic anemia
HP:0010972Anemia of inadequate production
HP:0001903Anemia
HP:0001877Abnormal erythrocyte morphology
HP:0012130Abnormal erythroid lineage cell morphology
HP:0030957Ventricular septal aneurysm
HP:0010438Abnormal ventricular septum morphology
HP:0001713Abnormal cardiac ventricle morphology
HP:0001671Abnormal cardiac septum morphology
HP:0003338Focal necrosis of right ventricular muscle cells
HP:0001637Abnormal myocardium morphology
HP:0001627Abnormal heart morphology
HP:0005994Nodular goiter
HP:0000853Goiter
HP:0011772Abnormality of thyroid morphology
HP:0000820Abnormality of the thyroid gland
HP:0031071Abnormal endocrine morphology
HP:0030950Pulmonary venous hypertension
HP:0030875Abnormality of pulmonary circulation
HP:0030163Abnormal vascular physiology
HP:0011025Abnormal cardiovascular system physiology
HP:0003333Increased serum beta-hexosaminidase
HP:0010876Abnormal circulating protein level
HP:0005995Decreased adipose tissue around neck
HP:0003758Reduced subcutaneous adipose tissue
HP:0040063Decreased adipose tissue
HP:0001001Abnormality of subcutaneous fat tissue
HP:0009124Abnormal adipose tissue morphology
HP:0030951Skeletal muscle fibrosis
HP:0003332Absent primary metaphyseal spongiosa
HP:0005089Abnormal metaphyseal trabeculation
HP:0030952Birdshot choroidal lesions
HP:0000610Abnormal choroid morphology
HP:0000553Abnormal uvea morphology
HP:0025015Abnormal vascular morphology
HP:0030680Abnormality of cardiovascular system morphology
HP:0001098Abnormal fundus morphology
HP:0004329Abnormal posterior eye segment morphology
HP:0003334Elevated circulating catecholamine level
HP:0012099Abnormality of circulating catecholamine level
HP:0002157Azotemia
HP:0004364Abnormal circulating nitrogen compound concentration
HP:0030953Conjunctival hyperemia
HP:0025337Red eye
HP:0008047Abnormality of the vasculature of the eye
HP:0012372Abnormal eye morphology
HP:0000478Abnormality of the eye
HP:0000502Abnormal conjunctiva morphology
HP:0005997Restricted neck movement due to contractures
HP:0005986Limitation of neck motion
HP:0001371Flexion contracture
HP:0100261Abnormal tendon morphology
http://purl.obolibrary.org/obo/UBERON_0005868maxillary prominence
http://purl.obolibrary.org/obo/UBERON_0005867mandibular prominence
http://purl.obolibrary.org/obo/UBERON_0012314embryonic facial prominence
http://purl.obolibrary.org/obo/UBERON_0005866pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0005865pre-muscle condensation
HP:0040333Confluent hypointensity of cerebral white matter on MRI
http://purl.obolibrary.org/obo/CHEBI_48873cholinergic antagonist
http://purl.obolibrary.org/obo/CHEBI_38323cholinergic drug
http://purl.obolibrary.org/obo/CHEBI_35942neurotransmitter agent
http://purl.obolibrary.org/obo/CHEBI_23888drug
http://purl.obolibrary.org/obo/CHEBI_52217pharmaceutical
http://purl.obolibrary.org/obo/CHEBI_33232application
HP:0040334Purulent rhinitis
HP:0002257Chronic rhinitis
HP:0012384Rhinitis
HP:0000366Abnormality of the nose
HP:0040331Focal hypointensity of cerebral white matter on MRI
HP:0040332Multifocal hypointensity of cerebral white matter on MRI
HP:0007103Hypointensity of cerebral white matter on MRI
HP:0040330Confluent hyperintensity of cerebral white matter on MRI
HP:0007204Diffuse white matter abnormalities
http://purl.obolibrary.org/obo/UBERON_0005863cartilaginous condensation
http://purl.obolibrary.org/obo/UBERON_0005876undifferentiated genital tubercle
http://purl.obolibrary.org/obo/UBERON_0003216hard palate
http://purl.obolibrary.org/obo/UBERON_0003218ovary septum
http://purl.obolibrary.org/obo/UBERON_0003037septum
http://purl.obolibrary.org/obo/UBERON_0003212gustatory organ
http://purl.obolibrary.org/obo/UBERON_0000005chemosensory organ
http://purl.obolibrary.org/obo/UBERON_00058743rd arch pharyngeal cleft
http://purl.obolibrary.org/obo/UBERON_00058732nd arch pharyngeal cleft
http://purl.obolibrary.org/obo/UBERON_00058721st arch pharyngeal cleft
http://purl.obolibrary.org/obo/UBERON_0005879pharyngeal cleft
http://purl.obolibrary.org/obo/UBERON_0016545pharyngeal ectoderm
http://purl.obolibrary.org/obo/UBERON_0003351pharyngeal epithelium
http://purl.obolibrary.org/obo/UBERON_0005911endo-epithelium
http://purl.obolibrary.org/obo/UBERON_0004807respiratory system epithelium
http://purl.obolibrary.org/obo/UBERON_0006846surface groove
http://purl.obolibrary.org/obo/UBERON_0005870olfactory pit
http://purl.obolibrary.org/obo/UBERON_0016566pit
http://purl.obolibrary.org/obo/UBERON_0036215anatomical surface region
HP:0040319Dark urine
HP:0040317Blue urine
HP:0040318Red urine
HP:0040315Tongue edema
HP:0000969Edema
HP:0011032Abnormality of fluid regulation
HP:0040313Oligoarthritis
http://purl.obolibrary.org/obo/UBERON_0003229epithelium of elbow
HP:0040314Blind vagina
HP:0000142Abnormal vagina morphology
HP:0040311Symetrical distal arthritis
HP:0040312Temporomandibular arthritis
HP:0040310Sterile arthritis
HP:0001369Arthritis
http://purl.obolibrary.org/obo/UBERON_0003220metanephric mesenchyme
http://purl.obolibrary.org/obo/UBERON_0003918kidney mesenchyme
http://purl.obolibrary.org/obo/UBERON_0003221phalanx
http://purl.obolibrary.org/obo/UBERON_0012357digitopodium bone
http://purl.obolibrary.org/obo/UBERON_0003606limb long bone
http://purl.obolibrary.org/obo/UBERON_0002495long bone
http://purl.obolibrary.org/obo/UBERON_0015023phalanx endochondral element
http://purl.obolibrary.org/obo/UBERON_0005884hyoid arch skeleton
http://purl.obolibrary.org/obo/UBERON_0010912subdivision of skeleton
http://purl.obolibrary.org/obo/UBERON_0005881autopodial extension
http://purl.obolibrary.org/obo/UBERON_0000475organism subdivision
http://www.informatics.jax.org/marker/MGI:99440Cd33 (mouse)
HP:0030990Pleomorphic cholangitis
HP:0030991Sclerosing cholangitis
HP:0030151Cholangitis
HP:0030993Duplication of pancreatic duct
HP:0030992Abnormal pancreatic duct morphology
http://purl.obolibrary.org/obo/UBERON_0005899pes bone
http://purl.obolibrary.org/obo/UBERON_0005897manus bone
http://purl.obolibrary.org/obo/UBERON_0008962forelimb bone
http://purl.obolibrary.org/obo/UBERON_0010741bone of pectoral complex
http://purl.obolibrary.org/obo/UBERON_0011250autopod bone
HP:0040328Focal hyperintensity of cerebral white matter on MRI
HP:0007042Focal white matter lesions
HP:0040329Multifocal hyperintensity of cerebral white matter on MRI
HP:0030890Hyperintensity of cerebral white matter on MRI
HP:0007052Multifocal cerebral white matter abnormalities
HP:0002500Abnormality of the cerebral white matter
HP:0010993Abnormality of the cerebral subcortex
HP:0040326Hypoplasia of the olfactory bulb
HP:0002977Aplasia/Hypoplasia involving the central nervous system
HP:0040327Abnormal morphology of the olfactory bulb
HP:0040324Heliotrope rash
HP:0040325Bull's eye rash
HP:0000988Rash
HP:0011123Inflammatory abnormality of the skin
HP:0012649Increased inflammatory response
HP:0012647Abnormal inflammatory response
http://purl.obolibrary.org/obo/PR_P08920T-cell surface antigen CD2 (mouse)
http://purl.obolibrary.org/obo/PR_000001083CD2 molecule
HP:0040322Purple urine
HP:0040323Erythema of the eyelids
HP:0010783Erythema
HP:0011276Vascular skin abnormality
HP:0011354Generalized abnormality of skin
HP:0011121Abnormality of skin morphology
HP:0000492Abnormal eyelid morphology
HP:0040320Red-brown urine
HP:0040321Dark yellow urine
HP:0012086Abnormal urinary color
http://purl.obolibrary.org/obo/UBERON_0003230epithelium of carpal region
http://purl.obolibrary.org/obo/UBERON_0003231epithelium of hip
http://purl.obolibrary.org/obo/UBERON_0003232epithelium of knee
http://purl.obolibrary.org/obo/UBERON_0003233epithelium of shoulder
HP:0030998Cerebrospinal fluid rhinorrhoea
HP:0002921Abnormality of the cerebrospinal fluid
HP:0030999Abnormal vestibular saccule morphology
HP:0011376Morphological abnormality of the vestibule of the inner ear
HP:0009911Abnormal temporal bone morphology
HP:0011390Morphological abnormality of the inner ear
HP:0000359Abnormality of the inner ear
HP:0031703Abnormal ear morphology
HP:0000598Abnormality of the ear
HP:0002693Abnormality of the skull base
http://purl.obolibrary.org/obo/UBERON_0015214arcuate ligament
http://purl.obolibrary.org/obo/UBERON_0000211ligament
http://purl.obolibrary.org/obo/UBERON_0005181thoracic segment organ
http://purl.obolibrary.org/obo/UBERON_0005177trunk region element
http://purl.obolibrary.org/obo/UBERON_0005893leg bone
http://purl.obolibrary.org/obo/UBERON_0003464hindlimb bone
http://purl.obolibrary.org/obo/UBERON_0002428limb bone
http://purl.obolibrary.org/obo/UBERON_0002513endochondral bone
http://purl.obolibrary.org/obo/UBERON_0004375bone of free limb or fin
http://purl.obolibrary.org/obo/UBERON_0010742bone of pelvic complex
http://purl.obolibrary.org/obo/UBERON_0010740bone of appendage girdle complex
http://purl.obolibrary.org/obo/UBERON_0001474bone element
HP:0030994Pancreas divisum
HP:0012090Abnormal pancreas morphology
HP:0001732Abnormality of the pancreas
http://purl.obolibrary.org/obo/UBERON_0005891coelomic epithelium
HP:0030995Peritoneal effusion
HP:0002585Abnormality of the peritoneum
HP:0004298Abnormality of the abdominal wall
HP:0030996Megaduodenum
HP:0002246Abnormality of the duodenum
HP:0002244Abnormality of the small intestine
HP:0030997Atretic vas deferens
HP:0012872Abnormal vas deferens morphology
HP:0000022Abnormality of male internal genitalia
HP:0010461Abnormality of the male genitalia
http://www.informatics.jax.org/marker/MGI:107474Cd38 (mouse)
HP:0003384Peripheral axonal atrophy
HP:0003382Hypertrophic nerve changes
HP:0003388Easy fatigability
HP:0004302Functional motor deficit
HP:0003387Decreased number of large peripheral myelinated nerve fibers
HP:0003380Decreased number of peripheral myelinated nerve fibers
http://purl.obolibrary.org/obo/UBERON_0005838fasciculus of brain
http://purl.obolibrary.org/obo/UBERON_0005837fasciculus of spinal cord
http://purl.obolibrary.org/obo/UBERON_0001019nerve fasciculus
http://purl.obolibrary.org/obo/CHEBI_22299aldonate
http://purl.obolibrary.org/obo/CHEBI_33721carbohydrate acid anion
HP:0003397Generalized hypotonia due to defect at the neuromuscular junction
HP:0001290Generalized hypotonia
HP:0001252Muscular hypotonia
HP:0003808Abnormal muscle tone
HP:0003396Syringomyelia
HP:0100561Spinal cord lesion
HP:0003391Gowers sign
HP:0003701Proximal muscle weakness
HP:0003390Sensory axonal neuropathy
HP:0003393Thenar muscle atrophy
HP:0009130Hand muscle atrophy
HP:0007149Distal upper limb amyotrophy
HP:0009129Upper limb amyotrophy
HP:0003797Limb-girdle muscle atrophy
HP:0003392First dorsal interossei muscle weakness
HP:0002460Distal muscle weakness
http://purl.obolibrary.org/obo/UBERON_0005845caudal segment of spinal cord
http://purl.obolibrary.org/obo/UBERON_0005843sacral spinal cord
http://purl.obolibrary.org/obo/UBERON_0005844spinal cord segment
http://purl.obolibrary.org/obo/UBERON_0001948regional part of spinal cord
http://purl.obolibrary.org/obo/UBERON_0000073regional part of nervous system
http://purl.obolibrary.org/obo/CHEBI_83228L-alpha-amino acid residue
http://purl.obolibrary.org/obo/CHEBI_33710alpha-amino-acid residue
http://purl.obolibrary.org/obo/CHEBI_33708amino-acid residue
http://www.informatics.jax.org/marker/MGI:99480Cebpa (mouse)
http://purl.obolibrary.org/obo/UBERON_0005855lumbar spinal cord ventral column
http://purl.obolibrary.org/obo/UBERON_0005854cervical spinal cord ventral column
http://purl.obolibrary.org/obo/UBERON_0005853sacral spinal cord ventral column
http://purl.obolibrary.org/obo/UBERON_0005852thoracic spinal cord ventral column
http://purl.obolibrary.org/obo/UBERON_0016551subdivision of spinal cord ventral column
http://purl.obolibrary.org/obo/UBERON_0016550spinal cord column
http://purl.obolibrary.org/obo/UBERON_0011215central nervous system cell part cluster
HP:0040298Hyperplasia of the endometrium
HP:0030126Abnormality of the endometrium
HP:0031105Abnormal uterus morphology
HP:0000130Abnormality of the uterus
HP:0000008Abnormal morphology of female internal genitalia
HP:0000812Abnormal internal genitalia
HP:0010460Abnormality of the female genitalia
HP:0012243Abnormal reproductive system morphology
HP:0000078Abnormality of the genital system
HP:0040299Decreased circulating free fatty acid level
HP:0040300Abnormal circulating free fatty acid concentration
HP:0040296Abnormal location of the eyebrow
HP:0000534Abnormal eyebrow morphology
HP:0030669Abnormal ocular adnexa morphology
HP:0032039Abnormality of the ocular adnexa
HP:0000315Abnormality of the orbital region
HP:0001595Abnormal hair morphology
HP:0011138Abnormality of skin adnexa morphology
HP:0040297Preauricular cyst
HP:0000383Abnormality of periauricular region
HP:0004426Abnormality of the cheek
HP:0040294Duplicated tongue
HP:0030809Abnormal tongue morphology
HP:0000157Abnormality of the tongue
HP:0040295Duplication of the upper lip
HP:0000177Abnormality of upper lip
HP:0000159Abnormal lip morphology
HP:0000163Abnormal oral cavity morphology
HP:0031816Abnormal oral morphology
HP:0000153Abnormality of the mouth
HP:0000309Abnormality of the midface
HP:0000271Abnormality of the face
HP:0040292Left hemiplegia
HP:0040293Right hemiplegia
HP:0002301Hemiplegia
HP:0004374Hemiplegia/hemiparesis
HP:0010549Weakness due to upper motor neuron dysfunction
HP:0040291Skeletal muscle steatosis
http://purl.obolibrary.org/obo/GO_0030218erythrocyte differentiation
http://purl.obolibrary.org/obo/GO_0030219megakaryocyte differentiation
http://purl.obolibrary.org/obo/CHEBI_24834inorganic anion
http://purl.obolibrary.org/obo/GO_0030216keratinocyte differentiation
http://purl.obolibrary.org/obo/GO_0009913epidermal cell differentiation
http://purl.obolibrary.org/obo/GO_0030855epithelial cell differentiation
http://purl.obolibrary.org/obo/GO_0030217T cell differentiation
http://purl.obolibrary.org/obo/CHEBI_24836inorganic oxide
http://purl.obolibrary.org/obo/GO_0030210heparin biosynthetic process
http://purl.obolibrary.org/obo/GO_0006024glycosaminoglycan biosynthetic process
http://purl.obolibrary.org/obo/GO_0006023aminoglycan biosynthetic process
http://purl.obolibrary.org/obo/GO_0009059macromolecule biosynthetic process
http://purl.obolibrary.org/obo/GO_1901137carbohydrate derivative biosynthetic process
http://purl.obolibrary.org/obo/GO_1901566organonitrogen compound biosynthetic process
http://purl.obolibrary.org/obo/GO_1901576organic substance biosynthetic process
http://purl.obolibrary.org/obo/GO_0030202heparin metabolic process
http://purl.obolibrary.org/obo/GO_1903510mucopolysaccharide metabolic process
http://purl.obolibrary.org/obo/GO_0030203glycosaminoglycan metabolic process
http://purl.obolibrary.org/obo/GO_0006022aminoglycan metabolic process
http://purl.obolibrary.org/obo/GO_1901135carbohydrate derivative metabolic process
http://purl.obolibrary.org/obo/GO_0043170macromolecule metabolic process
http://purl.obolibrary.org/obo/GO_0044272sulfur compound biosynthetic process
http://purl.obolibrary.org/obo/GO_0006790sulfur compound metabolic process
http://purl.obolibrary.org/obo/GO_0044249cellular biosynthetic process
http://purl.obolibrary.org/obo/GO_0009058biosynthetic process
http://purl.obolibrary.org/obo/CHEBI_36818seco-cholestane
http://purl.obolibrary.org/obo/GO_0032880regulation of protein localization
http://purl.obolibrary.org/obo/GO_0032879regulation of localization
http://purl.obolibrary.org/obo/UBERON_0005805dorsal aorta
http://purl.obolibrary.org/obo/UBERON_0000947aorta
http://purl.obolibrary.org/obo/UBERON_0013768great vessel of heart
http://purl.obolibrary.org/obo/UBERON_0003519thoracic cavity blood vessel
http://purl.obolibrary.org/obo/CHEBI_24868organic salt
http://purl.obolibrary.org/obo/CHEBI_24866salt
http://purl.obolibrary.org/obo/UBERON_0005800section of aorta
http://purl.obolibrary.org/obo/UBERON_0013522subdivision of tube
http://purl.obolibrary.org/obo/GO_0030221basophil differentiation
http://purl.obolibrary.org/obo/GO_0030851granulocyte differentiation
http://purl.obolibrary.org/obo/GO_0032881regulation of polysaccharide metabolic process
http://purl.obolibrary.org/obo/GO_0006109regulation of carbohydrate metabolic process
http://purl.obolibrary.org/obo/CHEBI_24864iodothyronine
http://purl.obolibrary.org/obo/UBERON_0005809cortex of manus bone
http://purl.obolibrary.org/obo/UBERON_0003598manus connective tissue
http://purl.obolibrary.org/obo/UBERON_0003588forelimb connective tissue
http://purl.obolibrary.org/obo/UBERON_0003587limb connective tissue
http://purl.obolibrary.org/obo/UBERON_0001439compact bone tissue
http://purl.obolibrary.org/obo/GO_0032886regulation of microtubule-based process
http://purl.obolibrary.org/obo/GO_0030225macrophage differentiation
http://purl.obolibrary.org/obo/UBERON_0005808bone tissue of long bone
http://purl.obolibrary.org/obo/UBERON_0002481bone tissue
http://purl.obolibrary.org/obo/UBERON_0004755skeletal tissue
http://purl.obolibrary.org/obo/CHEBI_24863iodophenol
http://purl.obolibrary.org/obo/CHEBI_38856halophenol
http://purl.obolibrary.org/obo/CHEBI_33853phenols
http://purl.obolibrary.org/obo/CHEBI_24862iodoamino acid
http://purl.obolibrary.org/obo/CHEBI_37142organoiodine compound
http://purl.obolibrary.org/obo/CHEBI_17792organohalogen compound
http://purl.obolibrary.org/obo/CHEBI_37578halide
http://purl.obolibrary.org/obo/CHEBI_24860iodine molecular entity
http://purl.obolibrary.org/obo/CHEBI_24471halogen molecular entity
http://purl.obolibrary.org/obo/CHEBI_24470haloamino acid
http://purl.obolibrary.org/obo/CHEBI_83820non-proteinogenic amino acid
HP:0040278Prolactinoma
HP:0012503Abnormality of the pituitary gland
HP:0010662Abnormality of the diencephalon
HP:0000864Abnormality of the hypothalamus-pituitary axis
http://purl.obolibrary.org/obo/PR_P06332T-cell surface glycoprotein CD4 (mouse)
http://purl.obolibrary.org/obo/PR_000001004CD4 molecule
http://purl.obolibrary.org/obo/UBERON_0005806portal system
http://purl.obolibrary.org/obo/UBERON_0002049vasculature
http://purl.obolibrary.org/obo/GO_0030224monocyte differentiation
http://purl.obolibrary.org/obo/GO_0002573myeloid leukocyte differentiation
http://purl.obolibrary.org/obo/GO_0030099myeloid cell differentiation
http://purl.obolibrary.org/obo/GO_1903131mononuclear cell differentiation
HP:0040276Adenocarcinoma of the colon
HP:0100273Neoplasm of the colon
HP:0040277Neoplasm of the pituitary gland
HP:0100568Neoplasm of the endocrine system
HP:0040274Adenocarcinoma of the small intestine
HP:0100833Neoplasm of the small intestine
HP:0040275Adenocarcinoma of the large intestine
HP:0100834Neoplasm of the large intestine
HP:0002250Abnormal large intestine morphology
HP:0002242Abnormal intestine morphology
HP:0012718Morphological abnormality of the gastrointestinal tract
HP:0040272Hyperintensity of MRI T2 signal of the spinal cord
HP:0040273Adenocarcinoma of the intestines
HP:0002672Gastrointestinal carcinoma
HP:0006749Malignant gastrointestinal tract tumors
HP:0007378Neoplasm of the gastrointestinal tract
HP:0011024Abnormality of the gastrointestinal tract
HP:0040270Impaired glucose tolerance
HP:0001952Glucose intolerance
http://purl.obolibrary.org/obo/CHEBI_3684111-hydroxy steroid
http://purl.obolibrary.org/obo/UBERON_0005814arch of atlas
http://purl.obolibrary.org/obo/UBERON_0010358arch of centrum of vertebra
http://purl.obolibrary.org/obo/UBERON_0005813tubercle
http://purl.obolibrary.org/obo/CHEBI_24859iodine atom
http://purl.obolibrary.org/obo/CHEBI_24473halogen
http://purl.obolibrary.org/obo/CHEBI_33560p-block element atom
http://purl.obolibrary.org/obo/CHEBI_33318main group element atom
http://purl.obolibrary.org/obo/CHEBI_25585nonmetal atom
http://purl.obolibrary.org/obo/CHEBI_33250atom
HP:0040289Cyclic neutropenia
HP:0001875Neutropenia
HP:0011991Abnormal neutrophil count
HP:0001874Abnormality of neutrophils
HP:0032309Abnormal granulocyte count
HP:0011893Abnormal leukocyte count
HP:0001911Abnormal granulocyte morphology
HP:0010974Abnormal myeloid leukocyte morphology
HP:0020047Abnormal myeloid cell morphology
HP:0025461Abnormal cell morphology
HP:0001881Abnormal leukocyte morphology
HP:0010987Abnormal cellular immune system morphology
HP:0032251Abnormal immune system morphology
HP:0040287Axial muscle atrophy
http://purl.obolibrary.org/obo/CHEBI_3683817-hydroxy steroid
HP:0040288Nasogastric tube feeding
HP:0011968Feeding difficulties
HP:0011458Abdominal symptom
HP:0025032Abnormality of digestive system physiology
HP:0040285Excluded
HP:0040286Abnormal axial muscle morphology
HP:0040283Occasional
HP:0040284Very rare
HP:0040281Very frequent
http://purl.obolibrary.org/obo/CHEBI_368363beta-hydroxy steroid
http://purl.obolibrary.org/obo/CHEBI_35681secondary alcohol
http://purl.obolibrary.org/obo/CHEBI_30879alcohol
http://purl.obolibrary.org/obo/CHEBI_368343-hydroxy steroid
HP:0040282Frequent
http://purl.obolibrary.org/obo/CHEBI_36830monoanion
HP:0040280Obligate
HP:0040279Frequency
http://purl.obolibrary.org/obo/CHEBI_1425903-aminoisobutanoic acid zwitterion
http://purl.obolibrary.org/obo/CHEBI_22221acyl group
http://purl.obolibrary.org/obo/CHEBI_142567alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp-yl group
http://purl.obolibrary.org/obo/CHEBI_30697beta-D-glucosyl group
http://purl.obolibrary.org/obo/CHEBI_24280D-glucosyl group
http://purl.obolibrary.org/obo/CHEBI_24281glucosyl group
http://purl.obolibrary.org/obo/CHEBI_24403glycosyl group
http://purl.obolibrary.org/obo/GO_0030252growth hormone secretion
http://purl.obolibrary.org/obo/GO_0030072peptide hormone secretion
http://purl.obolibrary.org/obo/GO_0002790peptide secretion
http://purl.obolibrary.org/obo/GO_0015833peptide transport
http://purl.obolibrary.org/obo/GO_0071702organic substance transport
http://purl.obolibrary.org/obo/GO_0042886amide transport
http://purl.obolibrary.org/obo/GO_0071705nitrogen compound transport
http://purl.obolibrary.org/obo/GO_0046879hormone secretion
http://purl.obolibrary.org/obo/GO_0009914hormone transport
http://purl.obolibrary.org/obo/GO_0010817regulation of hormone levels
http://purl.obolibrary.org/obo/GO_0023061signal release
http://purl.obolibrary.org/obo/GO_0032940secretion by cell
http://purl.obolibrary.org/obo/GO_0140352export from cell
http://purl.obolibrary.org/obo/GO_0046903secretion
http://purl.obolibrary.org/obo/GO_0006810transport
http://purl.obolibrary.org/obo/GO_0051234establishment of localization
http://purl.obolibrary.org/obo/GO_0051179localization
http://purl.obolibrary.org/obo/GO_0030258lipid modification
http://purl.obolibrary.org/obo/GO_0044255cellular lipid metabolic process
http://purl.obolibrary.org/obo/GO_0006629lipid metabolic process
http://purl.obolibrary.org/obo/CHEBI_24875iron cation
http://purl.obolibrary.org/obo/CHEBI_82663elemental iron
http://purl.obolibrary.org/obo/CHEBI_33515transition element cation
http://purl.obolibrary.org/obo/CHEBI_25213metal cation
http://purl.obolibrary.org/obo/CHEBI_23906monoatomic cation
http://purl.obolibrary.org/obo/CHEBI_24867monoatomic ion
http://purl.obolibrary.org/obo/CHEBI_33238monoatomic entity
http://purl.obolibrary.org/obo/CHEBI_33259elemental molecular entity
http://purl.obolibrary.org/obo/CHEBI_36915inorganic cation
http://purl.obolibrary.org/obo/CHEBI_36914inorganic ion
http://purl.obolibrary.org/obo/CHEBI_24835inorganic molecular entity
http://purl.obolibrary.org/obo/CHEBI_36916cation
http://purl.obolibrary.org/obo/CHEBI_24873iron molecular entity
http://purl.obolibrary.org/obo/CHEBI_33744iron group molecular entity
http://purl.obolibrary.org/obo/CHEBI_33676d-block molecular entity
http://purl.obolibrary.org/obo/CHEBI_33497transition element molecular entity
http://purl.obolibrary.org/obo/GO_0030262apoptotic nuclear changes
http://purl.obolibrary.org/obo/GO_0006921cellular component disassembly involved in execution phase of apoptosis
http://purl.obolibrary.org/obo/GO_0022411cellular component disassembly
http://purl.obolibrary.org/obo/CHEBI_36853hydroxy seco-steroid
http://purl.obolibrary.org/obo/CHEBI_35350hydroxy steroid
http://purl.obolibrary.org/obo/CHEBI_33822organic hydroxy compound
http://purl.obolibrary.org/obo/CHEBI_35788seco-steroid
http://purl.obolibrary.org/obo/GO_0030263apoptotic chromosome condensation
http://purl.obolibrary.org/obo/GO_0030261chromosome condensation
http://purl.obolibrary.org/obo/GO_0006323DNA packaging
http://purl.obolibrary.org/obo/GO_0071103DNA conformation change
http://purl.obolibrary.org/obo/GO_0051276chromosome organization
http://purl.obolibrary.org/obo/CHEBI_48854sulfurous acid
http://purl.obolibrary.org/obo/CHEBI_33402sulfur oxoacid
http://purl.obolibrary.org/obo/CHEBI_26835sulfur molecular entity
http://purl.obolibrary.org/obo/CHEBI_33484chalcogen oxoacid
http://purl.obolibrary.org/obo/CHEBI_3688520-oxo steroid
http://purl.obolibrary.org/obo/CHEBI_3688718-oxo steroid
http://purl.obolibrary.org/obo/CHEBI_35789oxo steroid
http://purl.obolibrary.org/obo/CHEBI_35341steroid
http://purl.obolibrary.org/obo/CHEBI_51958organic polycyclic compound
http://purl.obolibrary.org/obo/CHEBI_17087ketone
http://purl.obolibrary.org/obo/CHEBI_24898isoleucine
http://purl.obolibrary.org/obo/CHEBI_382642-amino-3-methylpentanoic acid
http://purl.obolibrary.org/obo/CHEBI_33704alpha-amino acid
http://purl.obolibrary.org/obo/CHEBI_22918branched-chain amino acid
http://purl.obolibrary.org/obo/CHEBI_33709amino acid
http://purl.obolibrary.org/obo/CHEBI_33575carboxylic acid
http://purl.obolibrary.org/obo/CHEBI_64709organic acid
http://purl.obolibrary.org/obo/CHEBI_35605carbon oxoacid
http://purl.obolibrary.org/obo/CHEBI_24833oxoacid
http://purl.obolibrary.org/obo/CHEBI_24651hydroxides
http://purl.obolibrary.org/obo/CHEBI_33608hydrogen molecular entity
http://purl.obolibrary.org/obo/CHEBI_33674s-block molecular entity
http://purl.obolibrary.org/obo/CHEBI_36586carbonyl compound
http://purl.obolibrary.org/obo/CHEBI_36587organic oxo compound
http://purl.obolibrary.org/obo/PR_P21926CD9 antigen (human)
http://purl.obolibrary.org/obo/PR_000005178CD9 molecule
http://purl.obolibrary.org/obo/PR_000001403tetraspanin
http://purl.obolibrary.org/obo/GO_0030279negative regulation of ossification
http://purl.obolibrary.org/obo/GO_0030278regulation of ossification
http://purl.obolibrary.org/obo/GO_0030282bone mineralization
http://purl.obolibrary.org/obo/GO_0031214biomineral tissue development
http://purl.obolibrary.org/obo/GO_0009888tissue development
http://purl.obolibrary.org/obo/GO_0048856anatomical structure development
http://purl.obolibrary.org/obo/GO_0110148biomineralization
HP:0005929Synostosis involving the tibia
HP:0002992Abnormality of tibia morphology
http://purl.obolibrary.org/obo/CHEBI_142533->4)-alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp-yl group
HP:0005925Abnormalities of the diaphyses of the hand
HP:0009808Anomaly of the upper limb diaphyses
HP:0000940Abnormal diaphysis morphology
HP:0005926Abnormality of hand cortical bone
HP:0003103Abnormal cortical bone morphology
HP:0003549Abnormality of connective tissue
HP:0005928Synostosis involving the fibula
HP:0009138Synostosis involving bones of the lower limbs
HP:0100491Abnormality of lower limb joint
HP:0100240Synostosis of joints
HP:0001367Abnormal joint morphology
HP:0011729Abnormality of joint mobility
HP:0011843Abnormality of skeletal physiology
HP:0003330Abnormal bone structure
HP:0002991Abnormality of fibula morphology
HP:0002981Abnormality of the calf
HP:0005923Abnormalities of the metaphyses of the hand
HP:0009809Abnormality of upper limb metaphysis
HP:0005920Abnormal epiphysis morphology of the phalanges of the hand
http://purl.obolibrary.org/obo/GO_0019814immunoglobulin complex
HP:0005938Abnormal respiratory motile cilium morphology
HP:0012253Abnormal respiratory epithelium morphology
HP:0005939Multiple bilateral pneumothoraces
HP:0002107Pneumothorax
HP:0005932Abnormal renal corticomedullary differentiation
HP:0011035Abnormal renal cortex morphology
HP:0100957Abnormal renal medulla morphology
HP:0012210Abnormal renal morphology
HP:0000077Abnormality of the kidney
HP:0010935Abnormality of the upper urinary tract
HP:0005934Imperfect vocal cord adduction
HP:0031801Vocal cord dysfunction
HP:0001608Abnormality of the voice
HP:0005947Decreased sensitivity to hypoxemia
HP:0005948Multiple pulmonary cysts
HP:0032445Pulmonary cyst
HP:0005949Apneic episodes in infancy
HP:0002104Apnea
HP:0005943Respiratory arrest
HP:0005944Bilateral lung agenesis
HP:0006703Aplasia/Hypoplasia of the lungs
http://purl.obolibrary.org/obo/GO_0019852L-ascorbic acid metabolic process
http://purl.obolibrary.org/obo/GO_0006767water-soluble vitamin metabolic process
http://purl.obolibrary.org/obo/GO_0006766vitamin metabolic process
http://purl.obolibrary.org/obo/GO_0005996monosaccharide metabolic process
http://purl.obolibrary.org/obo/GO_0005975carbohydrate metabolic process
http://purl.obolibrary.org/obo/GO_0044238primary metabolic process
HP:0005945Laryngeal obstruction
HP:0005946Ventilator dependence with inability to wean
HP:0004887Respiratory failure requiring assisted ventilation
HP:0002093Respiratory insufficiency
HP:0005941Intermittent hyperpnea at rest
HP:0004879Intermittent hyperventilation
HP:0002883Hyperventilation
HP:0002793Abnormal pattern of respiration
HP:0005942Desquamative interstitial pneumonitis
HP:0006530Interstitial pulmonary abnormality
HP:0005959Impaired gluconeogenesis
HP:0011013Abnormal circulating carbohydrate concentration
HP:0011014Abnormal glucose homeostasis
HP:0012337Abnormal homeostasis
http://purl.obolibrary.org/obo/PR_Q9PT92catalase (zebrafish)
http://purl.obolibrary.org/obo/PR_000005061catalase
http://purl.obolibrary.org/obo/PR_000029061Danio rerio protein
HP:0005954Pulmonary capillary hemangiomatosis
HP:0004930Abnormality of the pulmonary vasculature
HP:0002088Abnormal lung morphology
HP:0005306Capillary hemangioma
HP:0007461Hemangiomatosis
HP:0001028Hemangioma
HP:0100742Vascular neoplasm
HP:0011793Neoplasm by anatomical site
HP:0002664Neoplasm
HP:0002597Abnormality of the vasculature
HP:0001626Abnormality of the cardiovascular system
HP:0005956Anteroposteriorly shortened larynx
http://purl.obolibrary.org/obo/GO_0042221response to chemical
HP:0005957Breathing dysregulation
HP:0005950Laryngeal web
HP:0025423Abnormal larynx morphology
HP:0001600Abnormality of the larynx
HP:0002087Abnormality of the upper respiratory tract
HP:0012252Abnormal respiratory system morphology
HP:0005951Progressive inspiratory stridor
HP:0005348Inspiratory stridor
HP:0010307Stridor
HP:0030829Abnormal breath sound
HP:0005952Decreased pulmonary function
http://purl.obolibrary.org/obo/UBERON_0015181neck of tooth
http://purl.obolibrary.org/obo/UBERON_0015180neck of talus
http://purl.obolibrary.org/obo/UBERON_0018664neck of bone element
http://purl.obolibrary.org/obo/UBERON_0001560neck of organ
http://purl.obolibrary.org/obo/UBERON_0005913zone of bone organ
HP:0030907Thunderclap headache
HP:0002315Headache
HP:0030908Liver kidney microsome type 1 antibody positivity
HP:0030909Anti-liver cytosolic antigen type 1 antibody positivity
http://purl.obolibrary.org/obo/PR_P18337L-selectin (mouse)
http://purl.obolibrary.org/obo/PR_000001318L-selectin
HP:0030903Grasp reflex
HP:0030904Glabellar reflex
HP:0030905Snout reflex
HP:0030906Suck reflex
HP:0030900Pruritus on foot
HP:0030901Pruritis on breast
HP:0000989Pruritus
HP:0011122Abnormality of skin physiology
HP:0000951Abnormality of the skin
HP:0001574Abnormality of the integument
HP:0030902Palmomental reflex
HP:0002476Primitive reflex
http://purl.obolibrary.org/obo/GO_0032839dendrite cytoplasm
http://purl.obolibrary.org/obo/GO_0120111neuron projection cytoplasm
http://purl.obolibrary.org/obo/GO_0032838plasma membrane bounded cell projection cytoplasm
http://purl.obolibrary.org/obo/GO_0099568cytoplasmic region
http://purl.obolibrary.org/obo/GO_0005737cytoplasm
http://purl.obolibrary.org/obo/GO_0019866organelle inner membrane
http://purl.obolibrary.org/obo/GO_0031090organelle membrane
http://purl.obolibrary.org/obo/GO_0016020membrane
http://purl.obolibrary.org/obo/CHEBI_24828indoles
http://purl.obolibrary.org/obo/CHEBI_22728benzopyrrole
http://purl.obolibrary.org/obo/CHEBI_38180polycyclic heteroarene
http://purl.obolibrary.org/obo/CHEBI_27171organic heterobicyclic compound
http://purl.obolibrary.org/obo/CHEBI_38166organic heteropolycyclic compound
http://purl.obolibrary.org/obo/CHEBI_33671heteropolycyclic compound
http://purl.obolibrary.org/obo/CHEBI_33635polycyclic compound
http://purl.obolibrary.org/obo/CHEBI_33672heterobicyclic compound
http://purl.obolibrary.org/obo/CHEBI_33636bicyclic compound
HP:0005905Abnormal cervical curvature
HP:0046508Abnormal cervical spine morphology
HP:0003319Abnormality of the cervical spine
HP:0000464Abnormality of the neck
HP:0005906Delayed pneumatization of the mastoid process
HP:0000264Abnormality of the mastoid
HP:0000929Abnormal skull morphology
HP:0000234Abnormality of the head
HP:0000152Abnormality of head or neck
HP:0005900Fifth metacarpal with ulnar notch
HP:0010013Abnormality of the 5th metacarpal
HP:0005914Aplasia/Hypoplasia involving the metacarpal bones
HP:0005927Aplasia/hypoplasia involving bones of the hand
HP:0006496Aplasia/hypoplasia involving bones of the upper limbs
HP:0045060Aplasia/hypoplasia involving bones of the extremities
HP:0009815Aplasia/hypoplasia of the extremities
HP:0009115Aplasia/hypoplasia involving the skeleton
HP:0005916Abnormal metacarpal morphology
HP:0005917Supernumerary metacarpal bones
http://purl.obolibrary.org/obo/GO_0044848biological phase
HP:0005910Rhomboid or triangular shaped 5th finger middle phalanx
HP:0009182Triangular shaped middle phalanx of the 5th finger
HP:0004219Abnormality of the middle phalanx of the 5th finger
HP:0009850Triangular shaped middle phalanges of the hand
HP:0009833Abnormal middle phalanx morphology of the hand
HP:0009378Triangular shaped phalanges of the 5th finger
HP:0009774Triangular shaped phalanges of the hand
HP:0004213Abnormal 5th finger phalanx morphology
HP:0004207Abnormal 5th finger morphology
HP:0005918Abnormal finger phalanx morphology
HP:0001167Abnormality of finger
HP:0011297Abnormal digit morphology
HP:0005912Biliary atresia
HP:0012440Abnormal biliary tract morphology
HP:0001080Biliary tract abnormality
HP:0004297Abnormality of the biliary system
HP:0001392Abnormality of the liver
HP:0002012Abnormality of the abdominal organs
HP:0025033Abnormality of digestive system morphology
HP:0025031Abnormality of the digestive system
HP:0005913Abnormality of metacarpal epiphyses
HP:0005924Abnormality of the epiphyses of the hand
HP:0003839Abnormality of upper limb epiphysis morphology
HP:0006505Abnormality of limb epiphysis morphology
HP:0005930Abnormality of epiphysis morphology
HP:0001163Abnormality of the metacarpal bones
HP:0040070Abnormal upper limb bone morphology
http://purl.obolibrary.org/obo/UBERON_0015142falciform fat
http://purl.obolibrary.org/obo/UBERON_0003427abdominal fat pad
http://purl.obolibrary.org/obo/UBERON_0007808adipose tissue of abdominal region
http://purl.obolibrary.org/obo/UBERON_0003567abdomen connective tissue
http://purl.obolibrary.org/obo/UBERON_0003838abdominal segment connective tissue
http://purl.obolibrary.org/obo/UBERON_0015143mesenteric fat pad
http://purl.obolibrary.org/obo/UBERON_0003916fat pad
http://purl.obolibrary.org/obo/UBERON_0015145pes hair
http://purl.obolibrary.org/obo/UBERON_0015147pinna hair
http://purl.obolibrary.org/obo/UBERON_0022279strand of hair on external ear
http://purl.obolibrary.org/obo/UBERON_0016446hair of head
http://purl.obolibrary.org/obo/UBERON_0015146manus hair
http://purl.obolibrary.org/obo/UBERON_0015144autopod hair
HP:0003461Increased urinary O-linked sialopeptides
HP:0012067Glycopeptiduria
HP:0003460Decreased circulating total IgA
HP:0002720Decreased circulating IgA level
HP:0410240Abnormal circulating IgA level
HP:0004313Decreased circulating antibody level
HP:0003463Increased extraneuronal autofluorescent lipopigment
HP:0011813Increased cerebral lipofuscin
HP:0007367Atrophy/Degeneration affecting the central nervous system
http://purl.obolibrary.org/obo/NBO_0002436regulation of feeding behavior
http://purl.obolibrary.org/obo/NBO_0002169regulation of consumption behavior
http://purl.obolibrary.org/obo/NBO_0001786regulation of behavior
http://purl.obolibrary.org/obo/NBO_0000313behavior process
HP:0003462Elevated 8-dehydrocholesterol
http://purl.obolibrary.org/obo/UBERON_0015149ventral hair
HP:0003469Peripheral dysmyelination
http://purl.obolibrary.org/obo/UBERON_0015148tail hair
HP:0003465Elevated 8(9)-cholestenol
HP:0003107Abnormal circulating cholesterol concentration
HP:0003467Atlantoaxial instability
HP:0003466Paradoxical increased cortisol secretion on dexamethasone suppression test
HP:0011731Abnormality of circulating cortisol level
HP:0012111Abnormality of circulating glucocorticoid level
HP:0003117Abnormal circulating hormone level
http://purl.obolibrary.org/obo/CHEBI_58163homocystine zwitterion
http://purl.obolibrary.org/obo/CHEBI_35238amino acid zwitterion
http://purl.obolibrary.org/obo/CHEBI_27369zwitterion
http://purl.obolibrary.org/obo/CHEBI_51151dipolar compound
http://purl.obolibrary.org/obo/UBERON_0015154lateral gland of orbital region
http://purl.obolibrary.org/obo/UBERON_0015152gland of ocular region
http://purl.obolibrary.org/obo/UBERON_0002530gland
http://purl.obolibrary.org/obo/UBERON_0015156terminal branch of ophthalmic artery
http://purl.obolibrary.org/obo/UBERON_0015155conjunctival space
http://purl.obolibrary.org/obo/BFO_0000141immaterial entity
http://purl.obolibrary.org/obo/UBERON_0000464anatomical space
http://purl.obolibrary.org/obo/UBERON_0015150dorsal hair
http://purl.obolibrary.org/obo/UBERON_0001037strand of hair
http://purl.obolibrary.org/obo/UBERON_0000021cutaneous appendage
http://purl.obolibrary.org/obo/UBERON_0013703integumentary projection
http://purl.obolibrary.org/obo/UBERON_0004529anatomical projection
http://purl.obolibrary.org/obo/UBERON_0034768morphological feature
http://purl.obolibrary.org/obo/UBERON_0006003integumentary adnexa
HP:0003472Hypocalcemic tetany
HP:0002901Hypocalcemia
HP:0004363Abnormal circulating calcium concentration
HP:0010927Abnormal blood inorganic cation concentration
HP:0003474Sensory impairment
HP:0003473Fatigable weakness
HP:0003470Paralysis
HP:0003477Peripheral axonal neuropathy
http://purl.obolibrary.org/obo/UBERON_0015165multi-unit eye
http://purl.obolibrary.org/obo/UBERON_0000970eye
http://purl.obolibrary.org/obo/UBERON_0000020sense organ
http://purl.obolibrary.org/obo/UBERON_0015161inferior branch of oculomotor nerve
http://purl.obolibrary.org/obo/UBERON_0011779nerve of head region
http://purl.obolibrary.org/obo/UBERON_0001021nerve
http://purl.obolibrary.org/obo/UBERON_0000122neuron projection bundle
http://purl.obolibrary.org/obo/UBERON_0005162multi cell part structure
http://purl.obolibrary.org/obo/UBERON_0000477anatomical cluster
HP:0003482EMG: axonal abnormality
HP:0003484Upper limb muscle weakness
HP:0003325Limb-girdle muscle weakness
HP:0003481Segmental peripheral demyelination/remyelination
HP:0011096Peripheral demyelination
HP:0003487Babinski sign
HP:0007256Abnormal pyramidal sign
HP:0002493Upper motor neuron dysfunction
HP:0011442Abnormal central motor function
HP:0002538Abnormality of the cerebral cortex
HP:0002060Abnormal cerebral morphology
HP:0100547Abnormality of forebrain morphology
HP:0012443Abnormality of brain morphology
HP:0031828Abnormal superficial reflex
HP:0003489Acute episodes of neuropathic symptoms
http://purl.obolibrary.org/obo/UBERON_0015178somite border
http://purl.obolibrary.org/obo/UBERON_0015179somite boundary epithelium
http://purl.obolibrary.org/obo/UBERON_0015172endometrial blood vessel
HP:0003493Antinuclear antibody positivity
HP:0003495GM2-ganglioside accumulation
HP:0004345Ganglioside accumulation
HP:0004343Abnormality of glycosphingolipid metabolism
HP:0010969Abnormality of glycolipid metabolism
HP:0010968Abnormality of liposaccharide metabolism
HP:0032243Abnormal tissue metabolite concentration
HP:0003492High urinary gonadotropin level
HP:0012029Abnormal urine hormone level
HP:0000818Abnormality of the endocrine system
HP:0003491Elevated urine pyrophosphate
HP:0003498Disproportionate short stature
HP:0004322Short stature
HP:0000002Abnormality of body height
HP:0001510Growth delay
HP:0001507Growth abnormality
http://purl.obolibrary.org/obo/CHEBI_3892corticotropin
http://purl.obolibrary.org/obo/CHEBI_25905peptide hormone
http://purl.obolibrary.org/obo/CHEBI_15841polypeptide
http://purl.obolibrary.org/obo/CHEBI_16670peptide
http://purl.obolibrary.org/obo/CHEBI_33694biomacromolecule
http://purl.obolibrary.org/obo/CHEBI_33839macromolecule
http://purl.obolibrary.org/obo/GO_0042182ketone catabolic process
http://purl.obolibrary.org/obo/GO_1901575organic substance catabolic process
http://purl.obolibrary.org/obo/GO_0044248cellular catabolic process
http://purl.obolibrary.org/obo/GO_0044282small molecule catabolic process
http://purl.obolibrary.org/obo/GO_0009056catabolic process
http://purl.obolibrary.org/obo/GO_0042180cellular ketone metabolic process
HP:0003429CNS hypomyelination
HP:0011400Abnormal CNS myelination
http://purl.obolibrary.org/obo/UBERON_0005788lamina rara interna
http://purl.obolibrary.org/obo/UBERON_0015103distal tarsal bone 1 cartilage
http://purl.obolibrary.org/obo/UBERON_0015100distal tarsal cartilage
http://purl.obolibrary.org/obo/CHEBI_58190O-phosphonatoethanaminium(1-)
http://purl.obolibrary.org/obo/CHEBI_58945organophosphate oxoanion
http://purl.obolibrary.org/obo/UBERON_0003126trachea
http://purl.obolibrary.org/obo/UBERON_0000117respiratory tube
http://purl.obolibrary.org/obo/UBERON_0000025tube
http://purl.obolibrary.org/obo/UBERON_0003128cranium
http://purl.obolibrary.org/obo/UBERON_0003129skull
http://purl.obolibrary.org/obo/UBERON_0003120pharyngeal arch artery 3
http://purl.obolibrary.org/obo/UBERON_0003121pharyngeal arch artery 4
http://purl.obolibrary.org/obo/UBERON_0003123pharyngeal arch artery 6
http://purl.obolibrary.org/obo/UBERON_0003124chorion
http://purl.obolibrary.org/obo/UBERON_0005631extraembryonic membrane
http://purl.obolibrary.org/obo/UBERON_0000158membranous layer
http://purl.obolibrary.org/obo/UBERON_0015104distal tarsal bone 1 pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0015101distal tarsal bone pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0018101distal mesopodial pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0015102distal tarsal bone 1 endochondral element
HP:0003427Thenar muscle weakness
HP:0003690Limb muscle weakness
HP:0001324Muscle weakness
HP:0030237Hand muscle weakness
HP:0003426First dorsal interossei muscle atrophy
HP:0007181Interosseus muscle atrophy
HP:0001421Abnormality of the musculature of the hand
HP:0001446Abnormality of the musculature of the upper limbs
HP:0009127Abnormality of the musculature of the limbs
HP:0005922Abnormal hand morphology
HP:0001155Abnormality of the hand
HP:0002817Abnormality of the upper limb
HP:0003693Distal amyotrophy
HP:0003202Skeletal muscle atrophy
HP:0030236Abnormality of muscle size
HP:0003423Thoracolumbar kyphoscoliosis
HP:0002944Thoracolumbar scoliosis
HP:0005619Thoracolumbar kyphosis
HP:0002942Thoracic kyphosis
HP:0100711Abnormality of the thoracic spine
HP:0000765Abnormality of the thorax
HP:0100712Abnormality of the lumbar spine
HP:0002751Kyphoscoliosis
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0010674Abnormality of the curvature of the vertebral column
HP:0003422Vertebral segmentation defect
http://purl.obolibrary.org/obo/PR_P18181CD48 antigen (mouse)
http://purl.obolibrary.org/obo/PR_000001308CD48 molecule
http://purl.obolibrary.org/obo/UBERON_0003134female reproductive organ
http://purl.obolibrary.org/obo/UBERON_0003135male reproductive organ
http://purl.obolibrary.org/obo/UBERON_0003133reproductive organ
HP:0003436Prolonged miniature endplate currents
http://purl.obolibrary.org/obo/GO_0042168heme metabolic process
http://purl.obolibrary.org/obo/GO_0042440pigment metabolic process
http://purl.obolibrary.org/obo/GO_0006778porphyrin-containing compound metabolic process
http://purl.obolibrary.org/obo/GO_0033013tetrapyrrole metabolic process
http://purl.obolibrary.org/obo/GO_1901564organonitrogen compound metabolic process
http://purl.obolibrary.org/obo/GO_0006807nitrogen compound metabolic process
http://purl.obolibrary.org/obo/GO_1901360organic cyclic compound metabolic process
http://purl.obolibrary.org/obo/GO_0006725cellular aromatic compound metabolic process
http://purl.obolibrary.org/obo/GO_0046483heterocycle metabolic process
HP:0003435Cold-induced hand cramps
http://purl.obolibrary.org/obo/UBERON_0005795embryonic uterus
HP:0003438Absent Achilles reflex
HP:0200101Decreased/absent ankle reflexes
HP:0002522Areflexia of lower limbs
HP:0001284Areflexia
HP:0001315Reduced tendon reflexes
HP:0031826Abnormal reflex
HP:0100022Abnormality of movement
HP:0000708Behavioral abnormality
http://purl.obolibrary.org/obo/UBERON_0005792nephric ridge
HP:0003431Decreased motor nerve conduction velocity
HP:0040131Abnormal motor nerve conduction velocity
HP:0003434Sensory ataxic neuropathy
http://purl.obolibrary.org/obo/UBERON_0015121left outer canthus
http://purl.obolibrary.org/obo/UBERON_0015120right outer canthus
http://purl.obolibrary.org/obo/UBERON_0006726outer canthus
http://purl.obolibrary.org/obo/UBERON_0006742canthus
http://purl.obolibrary.org/obo/UBERON_0007651anatomical junction
http://purl.obolibrary.org/obo/UBERON_0015122anatomical line between outer canthi
http://purl.obolibrary.org/obo/UBERON_0006800anatomical line
http://purl.obolibrary.org/obo/UBERON_0000015non-material anatomical boundary
http://purl.obolibrary.org/obo/UBERON_0000466immaterial anatomical entity
HP:0003440Horizontal sacrum
HP:0005107Abnormal sacrum morphology
HP:0003447Axonal loss
http://purl.obolibrary.org/obo/UBERON_0015129epicardial fat
http://purl.obolibrary.org/obo/UBERON_0003837thoracic segment connective tissue
http://purl.obolibrary.org/obo/UBERON_0003586trunk connective tissue
http://purl.obolibrary.org/obo/UBERON_0035814pericardial fat
http://purl.obolibrary.org/obo/UBERON_0035818visceral fat
http://purl.obolibrary.org/obo/UBERON_0001013adipose tissue
HP:0003449Cold-induced muscle cramps
HP:0003394Muscle spasm
http://purl.obolibrary.org/obo/UBERON_0015128subepicardial layer of epicardium
http://purl.obolibrary.org/obo/UBERON_0007188mesothelium of serous pericardium
http://purl.obolibrary.org/obo/UBERON_0003388mesothelium of pericardial cavity
http://purl.obolibrary.org/obo/UBERON_0001136mesothelium
http://purl.obolibrary.org/obo/UBERON_0012275meso-epithelium
http://purl.obolibrary.org/obo/UBERON_0000487simple squamous epithelium
http://purl.obolibrary.org/obo/UBERON_0006914squamous epithelium
http://purl.obolibrary.org/obo/UBERON_0000490unilaminar epithelium
HP:0003448Decreased sensory nerve conduction velocity
HP:0000762Decreased nerve conduction velocity
HP:0040132Abnormal sensory nerve conduction velocity
HP:0040129Abnormal nerve conduction velocity
HP:0003134Abnormality of peripheral nerve conduction
HP:0030177Abnormality of peripheral nervous system electrophysiology
HP:0001311Abnormal nervous system electrophysiology
HP:0003443Decreased size of nerve terminals
HP:0003444EMG: chronic denervation signs
HP:0003445EMG: neuropathic changes
http://purl.obolibrary.org/obo/UBERON_0015130connective tissue of prostate gland
http://purl.obolibrary.org/obo/UBERON_0000077mixed endoderm/mesoderm-derived structure
http://purl.obolibrary.org/obo/UBERON_0011822dense irregular connective tissue
http://purl.obolibrary.org/obo/UBERON_0011821irregular connective tissue
http://purl.obolibrary.org/obo/UBERON_0011823dense connective tissue
http://purl.obolibrary.org/obo/UBERON_0002384connective tissue
HP:0003450Axonal regeneration
HP:0000764Peripheral axonal degeneration
HP:0003452Increased serum iron
HP:0040130Abnormal serum iron concentration
HP:0011031Abnormality of iron homeostasis
HP:0011030Abnormal blood transition element cation concentration
HP:0010929Abnormal blood cation concentration
HP:0003111Abnormal blood ion concentration
http://www.informatics.jax.org/marker/MGI:2151253Calca (mouse)
HP:0003451Increased rate of premature chromosome condensation
HP:0011019Abnormality of chromosome condensation
HP:0003458EMG: myopathic abnormalities
HP:0003198Myopathy
HP:0011805Abnormal skeletal muscle morphology
HP:0003459Polyclonal elevation of IgM
HP:0003496Increased circulating IgM level
HP:0010702Increased circulating antibody level
HP:0410243Abnormal circulating IgM level
HP:0010701Abnormal immunoglobulin level
HP:0005372Abnormality of B cell physiology
HP:0031409Abnormal lymphocyte physiology
HP:0011017Abnormal cellular physiology
HP:0025354Abnormal cellular phenotype
HP:0005368Abnormality of humoral immunity
HP:0003454Platelet antibody positive
HP:0003453Antineutrophil antibody positivity
HP:0030057Autoimmune antibody positivity
HP:0002960Autoimmunity
HP:0010978Abnormality of immune system physiology
HP:0002715Abnormality of the immune system
HP:0003456Low urinary cyclic AMP response to PTH administration
HP:0003110Abnormality of urine homeostasis
HP:0011277Abnormality of the urinary system physiology
HP:0000079Abnormality of the urinary system
HP:0000119Abnormality of the genitourinary system
HP:0003455Elevated circulating long chain fatty acid concentration
HP:0010964Abnormal circulating long-chain fatty-acid concentration
HP:0004359Abnormal circulating fatty-acid concentration
HP:0010996Abnormal circulating monocarboxylic acid cocentration
HP:0004354Abnormal circulating carboxylic acid concentration
HP:0500165Abnormal blood oxygen level
HP:0012415Abnormal blood gas level
HP:0002795Functional respiratory abnormality
HP:0002086Abnormality of the respiratory system
HP:0003077Hyperlipidemia
HP:0003119Abnormal circulating lipid concentration
HP:0032180Abnormal circulating metabolite concentration
HP:0001939Abnormality of metabolism/homeostasis
HP:0001871Abnormality of blood and blood-forming tissues
http://purl.obolibrary.org/obo/UBERON_0005749glomerular tuft
http://purl.obolibrary.org/obo/UBERON_0005745optic foramen
http://purl.obolibrary.org/obo/UBERON_0013685foramen of skull
http://purl.obolibrary.org/obo/UBERON_0015212lateral structure
http://purl.obolibrary.org/obo/UBERON_0005744bone foramen
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11556TAL1 (human)
http://purl.obolibrary.org/obo/GO_0030168platelet activation
http://purl.obolibrary.org/obo/UBERON_0005740tunica intima of artery
http://purl.obolibrary.org/obo/UBERON_0002523tunica intima
http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9053PLAUR (human)
http://purl.obolibrary.org/obo/SO_0001217protein_coding_gene
http://purl.obolibrary.org/obo/SO_0000704gene
http://purl.obolibrary.org/obo/SO_0000110sequence_feature
http://purl.obolibrary.org/obo/UBERON_0005754rostral part of nephrogenic cord
http://purl.obolibrary.org/obo/UBERON_0017732raphe of scrotum
http://purl.obolibrary.org/obo/UBERON_0005156reproductive structure
http://purl.obolibrary.org/obo/GO_0030182neuron differentiation
http://purl.obolibrary.org/obo/GO_0030183B cell differentiation
http://purl.obolibrary.org/obo/GO_0030098lymphocyte differentiation
http://purl.obolibrary.org/obo/GO_0002521leukocyte differentiation
http://purl.obolibrary.org/obo/UBERON_0005753caudal part of nephrogenic cord
http://purl.obolibrary.org/obo/UBERON_0003103compound organ
http://purl.obolibrary.org/obo/UBERON_0003107Meckel's cartilage
http://purl.obolibrary.org/obo/UBERON_0011004pharyngeal arch cartilage
http://purl.obolibrary.org/obo/UBERON_0003933cranial cartilage
http://purl.obolibrary.org/obo/CHEBI_22160acetamides
http://purl.obolibrary.org/obo/CHEBI_37622carboxamide
http://purl.obolibrary.org/obo/CHEBI_33256primary amide
http://purl.obolibrary.org/obo/CHEBI_32988amide
http://purl.obolibrary.org/obo/GO_0030195negative regulation of blood coagulation
http://purl.obolibrary.org/obo/GO_0061045negative regulation of wound healing
http://purl.obolibrary.org/obo/GO_1903035negative regulation of response to wounding
http://purl.obolibrary.org/obo/GO_0032102negative regulation of response to external stimulus
http://purl.obolibrary.org/obo/GO_0048585negative regulation of response to stimulus
http://purl.obolibrary.org/obo/GO_0050819negative regulation of coagulation
http://purl.obolibrary.org/obo/GO_0051241negative regulation of multicellular organismal process
http://purl.obolibrary.org/obo/GO_1900047negative regulation of hemostasis
http://purl.obolibrary.org/obo/UBERON_0003100female organism
http://purl.obolibrary.org/obo/UBERON_0003101male organism
http://purl.obolibrary.org/obo/UBERON_0000468multicellular organism
http://purl.obolibrary.org/obo/GO_0030194positive regulation of blood coagulation
http://purl.obolibrary.org/obo/GO_1900048positive regulation of hemostasis
http://purl.obolibrary.org/obo/GO_0050820positive regulation of coagulation
http://purl.obolibrary.org/obo/GO_0090303positive regulation of wound healing
http://purl.obolibrary.org/obo/GO_1903036positive regulation of response to wounding
http://purl.obolibrary.org/obo/GO_0048584positive regulation of response to stimulus
http://purl.obolibrary.org/obo/GO_0030193regulation of blood coagulation
http://purl.obolibrary.org/obo/GO_0050818regulation of coagulation
http://purl.obolibrary.org/obo/GO_1900046regulation of hemostasis
http://purl.obolibrary.org/obo/GO_0050878regulation of body fluid levels
http://purl.obolibrary.org/obo/GO_0032101regulation of response to external stimulus
http://purl.obolibrary.org/obo/GO_0061041regulation of wound healing
http://purl.obolibrary.org/obo/GO_1903034regulation of response to wounding
http://purl.obolibrary.org/obo/GO_0080134regulation of response to stress
http://purl.obolibrary.org/obo/GO_0048583regulation of response to stimulus
http://purl.obolibrary.org/obo/UBERON_0003102surface structure
http://purl.obolibrary.org/obo/UBERON_0017748lower primary incisor tooth
http://purl.obolibrary.org/obo/UBERON_0016476primary incisor tooth
http://purl.obolibrary.org/obo/UBERON_0018617primary lower tooth
http://purl.obolibrary.org/obo/UBERON_0007115deciduous tooth
http://purl.obolibrary.org/obo/UBERON_0003451lower jaw incisor
http://purl.obolibrary.org/obo/UBERON_0001098incisor tooth
http://purl.obolibrary.org/obo/UBERON_0003268tooth of lower jaw
http://purl.obolibrary.org/obo/UBERON_0013765digestive system element
http://purl.obolibrary.org/obo/UBERON_0001091calcareous tooth
http://purl.obolibrary.org/obo/UBERON_0003913tooth-like structure
http://purl.obolibrary.org/obo/UBERON_0005777glomerular basement membrane
http://purl.obolibrary.org/obo/UBERON_0005769basement membrane of epithelium
http://purl.obolibrary.org/obo/UBERON_0005764acellular membrane
http://purl.obolibrary.org/obo/UBERON_0000476acellular anatomical structure
http://purl.obolibrary.org/obo/UBERON_0003114pharyngeal arch 3
http://purl.obolibrary.org/obo/UBERON_0003115pharyngeal arch 4
http://purl.obolibrary.org/obo/UBERON_0003117pharyngeal arch 6
http://purl.obolibrary.org/obo/UBERON_0002539pharyngeal arch
http://purl.obolibrary.org/obo/UBERON_0010188protuberance
http://purl.obolibrary.org/obo/UBERON_0034944zone of organ
http://purl.obolibrary.org/obo/UBERON_0003118pharyngeal arch artery 1
http://purl.obolibrary.org/obo/UBERON_0003119pharyngeal arch artery 2
http://purl.obolibrary.org/obo/UBERON_0004363pharyngeal arch artery
http://purl.obolibrary.org/obo/UBERON_0003496head blood vessel
http://purl.obolibrary.org/obo/UBERON_0003469respiratory system artery
http://purl.obolibrary.org/obo/UBERON_0003643respiratory system arterial blood vessel
http://purl.obolibrary.org/obo/UBERON_0003504respiratory system blood vessel
http://purl.obolibrary.org/obo/UBERON_0003110otic region
http://purl.obolibrary.org/obo/UBERON_0003111sphenoid region
http://purl.obolibrary.org/obo/UBERON_0003112olfactory region
http://purl.obolibrary.org/obo/UBERON_0034921multi organ part structure
http://purl.obolibrary.org/obo/UBERON_0003113dermatocranium
http://purl.obolibrary.org/obo/UBERON_0011159primary subdivision of cranial skeletal system
http://purl.obolibrary.org/obo/UBERON_0000075subdivision of skeletal system
http://purl.obolibrary.org/obo/UBERON_0011216organ system subdivision
http://purl.obolibrary.org/obo/PR_Q9Z0D9CX3C chemokine receptor 1 (mouse)
http://purl.obolibrary.org/obo/PR_000001206CX3C chemokine receptor 1
http://purl.obolibrary.org/obo/PR_000001128chemokine receptor
http://purl.obolibrary.org/obo/PR_000001094rhodopsin-like G-protein coupled receptor
http://purl.obolibrary.org/obo/PR_000030035G-protein coupled receptor
http://purl.obolibrary.org/obo/PR_000029032Mus musculus protein
http://purl.obolibrary.org/obo/UBERON_0005705primary palate mesenchyme
http://purl.obolibrary.org/obo/UBERON_0005704secondary palatal shelf mesenchyme
http://purl.obolibrary.org/obo/UBERON_0005702optic eminence mesenchyme
http://purl.obolibrary.org/obo/UBERON_0005701lower jaw molar odontogenic papilla
http://purl.obolibrary.org/obo/UBERON_0005700upper jaw molar odontogenic papilla
http://purl.obolibrary.org/obo/UBERON_0015844molar dental papilla
http://purl.obolibrary.org/obo/UBERON_0005709upper jaw incisor epithelium
http://purl.obolibrary.org/obo/UBERON_0003235epithelium of upper jaw
http://purl.obolibrary.org/obo/UBERON_0005708lower jaw incisor odontogenic papilla
http://purl.obolibrary.org/obo/UBERON_0003324mesenchyme of lower jaw
http://purl.obolibrary.org/obo/UBERON_0005707upper jaw incisor odontogenic papilla
http://purl.obolibrary.org/obo/UBERON_0003323mesenchyme of upper jaw
http://purl.obolibrary.org/obo/UBERON_0034995jaw mesenchyme
http://purl.obolibrary.org/obo/UBERON_0009891facial mesenchyme
http://purl.obolibrary.org/obo/UBERON_0003317odontogenic papilla of incisor
http://purl.obolibrary.org/obo/UBERON_0001763odontogenic papilla
http://purl.obolibrary.org/obo/UBERON_0010258mesenchyme from rhombencephalic neural crest
http://purl.obolibrary.org/obo/UBERON_0007213mesenchyme derived from head neural crest
http://purl.obolibrary.org/obo/UBERON_0014387mesenchyme derived from neural crest
http://purl.obolibrary.org/obo/UBERON_0005253head mesenchyme
http://purl.obolibrary.org/obo/UBERON_0005712midgut duodenum mesentery
http://purl.obolibrary.org/obo/UBERON_0003284mesentery of midgut
http://purl.obolibrary.org/obo/UBERON_0005711foregut duodenum mesentery
http://purl.obolibrary.org/obo/UBERON_0003397mesentery of duodenum
http://purl.obolibrary.org/obo/UBERON_0003336serosa of duodenum
http://purl.obolibrary.org/obo/UBERON_0001170mesentery of small intestine
http://purl.obolibrary.org/obo/UBERON_0004854gastrointestinal system mesentery
http://purl.obolibrary.org/obo/UBERON_0007826peritoneal mesentery
http://purl.obolibrary.org/obo/UBERON_0002358peritoneum
http://purl.obolibrary.org/obo/UBERON_0002095mesentery
http://purl.obolibrary.org/obo/UBERON_0001206serosa of small intestine
http://purl.obolibrary.org/obo/UBERON_0001243serosa of intestine
http://purl.obolibrary.org/obo/UBERON_0004782gastrointestinal system serosa
http://purl.obolibrary.org/obo/UBERON_0000042serous membrane
http://purl.obolibrary.org/obo/UBERON_0000481multi-tissue structure
http://purl.obolibrary.org/obo/UBERON_0005710lower jaw incisor epithelium
http://purl.obolibrary.org/obo/UBERON_0003355epithelium of incisor
http://purl.obolibrary.org/obo/UBERON_0003236epithelium of lower jaw
http://purl.obolibrary.org/obo/UBERON_0035037jaw epithelium
http://purl.obolibrary.org/obo/UBERON_0003929digestive tract epithelium
http://purl.obolibrary.org/obo/UBERON_0003843dental epithelium
http://purl.obolibrary.org/obo/UBERON_0005719footplate apical ectodermal ridge
http://purl.obolibrary.org/obo/UBERON_0004356apical ectodermal ridge
http://purl.obolibrary.org/obo/CARO_0000003connected anatomical structure
http://purl.obolibrary.org/obo/CARO_0000006material anatomical entity
http://purl.obolibrary.org/obo/CHEBI_58126porphobilinogen(1-)
http://purl.obolibrary.org/obo/CHEBI_35693dicarboxylic acid anion
http://purl.obolibrary.org/obo/CHEBI_58123(2S)-2-hydroxy monocarboxylic acid anion
http://purl.obolibrary.org/obo/CHEBI_36059hydroxy monocarboxylic acid anion
http://purl.obolibrary.org/obo/CHEBI_35757monocarboxylic acid anion
http://purl.obolibrary.org/obo/CHEBI_29067carboxylic acid anion
http://purl.obolibrary.org/obo/CHEBI_35406oxoanion
http://purl.obolibrary.org/obo/CHEBI_33273polyatomic anion
http://purl.obolibrary.org/obo/CHEBI_36358polyatomic ion
http://purl.obolibrary.org/obo/CHEBI_25741oxide
http://purl.obolibrary.org/obo/CHEBI_25696organic anion
http://purl.obolibrary.org/obo/CHEBI_25699organic ion
http://purl.obolibrary.org/obo/CHEBI_22563anion
http://purl.obolibrary.org/obo/CHEBI_24870ion
http://purl.obolibrary.org/obo/UBERON_0005728extraembryonic mesoderm
http://purl.obolibrary.org/obo/UBERON_0005292extraembryonic tissue
http://purl.obolibrary.org/obo/UBERON_0005725olfactory system
http://purl.obolibrary.org/obo/UBERON_0005726chemosensory system
http://purl.obolibrary.org/obo/UBERON_0001032sensory system
http://purl.obolibrary.org/obo/UBERON_0005724roof plate spinal cord region
http://purl.obolibrary.org/obo/UBERON_0005721pronephric mesoderm
http://purl.obolibrary.org/obo/UBERON_0000926mesoderm
http://purl.obolibrary.org/obo/UBERON_0000923germ layer
http://purl.obolibrary.org/obo/UBERON_0010316germ layer / neural crest
http://purl.obolibrary.org/obo/UBERON_0005729pectoral appendage field
http://purl.obolibrary.org/obo/UBERON_0005720hindbrain venous system
http://purl.obolibrary.org/obo/UBERON_0004582venous system
http://purl.obolibrary.org/obo/UBERON_0007798vascular system
http://purl.obolibrary.org/obo/UBERON_0000467anatomical system
http://purl.obolibrary.org/obo/UBERON_0005734tunica adventitia of blood vessel
http://purl.obolibrary.org/obo/UBERON_0005742adventitia
http://purl.obolibrary.org/obo/UBERON_0004797blood vessel layer
http://purl.obolibrary.org/obo/UBERON_0004923organ component layer
http://purl.obolibrary.org/obo/UBERON_0000064organ part
http://purl.obolibrary.org/obo/UBERON_0005733limb field
http://purl.obolibrary.org/obo/UBERON_0005730pelvic appendage field
http://purl.obolibrary.org/obo/UBERON_0006598presumptive structure
http://purl.obolibrary.org/obo/UBERON_0005732paired limb/fin field
http://purl.obolibrary.org/obo/UBERON_0007688anlage
http://purl.obolibrary.org/obo/UBERON_0017716thenar eminence
http://purl.obolibrary.org/obo/UBERON_0017717hypothenar eminence
http://purl.obolibrary.org/obo/UBERON_0034929external soft tissue zone
http://purl.obolibrary.org/obo/PR_000048927PR:000048927 located_in GO:0005576
http://purl.obolibrary.org/obo/PR_000021095prolactin, signal peptide removed form
http://purl.obolibrary.org/obo/PR_P01236prolactin (human)
http://purl.obolibrary.org/obo/PR_000013246prolactin
http://purl.obolibrary.org/obo/PR_000029968somatotropin hormone family member
http://purl.obolibrary.org/obo/CHEBI_24712hydroxymethyl group
http://purl.obolibrary.org/obo/CHEBI_50325proteinogenic amino-acid side-chain group
http://purl.obolibrary.org/obo/CHEBI_33249organyl group
http://purl.obolibrary.org/obo/CHEBI_51447organic univalent group
http://purl.obolibrary.org/obo/CHEBI_33247organic group
http://purl.obolibrary.org/obo/CHEBI_24433group
http://purl.obolibrary.org/obo/GO_0044706multi-multicellular organism process
http://purl.obolibrary.org/obo/GO_0032501multicellular organismal process
http://purl.obolibrary.org/obo/GO_0044703multi-organism reproductive process
http://purl.obolibrary.org/obo/GO_0051704multi-organism process
http://purl.obolibrary.org/obo/GO_0022414reproductive process
http://purl.obolibrary.org/obo/GO_0032769negative regulation of monooxygenase activity
http://purl.obolibrary.org/obo/GO_0051354negative regulation of oxidoreductase activity
http://purl.obolibrary.org/obo/GO_0043086negative regulation of catalytic activity
http://purl.obolibrary.org/obo/GO_0044092negative regulation of molecular function
http://purl.obolibrary.org/obo/GO_0032770positive regulation of monooxygenase activity
http://purl.obolibrary.org/obo/GO_0051353positive regulation of oxidoreductase activity
http://purl.obolibrary.org/obo/GO_0043085positive regulation of catalytic activity
http://purl.obolibrary.org/obo/GO_0044093positive regulation of molecular function
http://purl.obolibrary.org/obo/GO_0032768regulation of monooxygenase activity
http://purl.obolibrary.org/obo/GO_0051341regulation of oxidoreductase activity
http://purl.obolibrary.org/obo/GO_0050790regulation of catalytic activity
http://purl.obolibrary.org/obo/GO_0065009regulation of molecular function
http://purl.obolibrary.org/obo/CHEBI_48706antagonist
http://purl.obolibrary.org/obo/CHEBI_48705agonist
http://purl.obolibrary.org/obo/CHEBI_52210pharmacological role
http://purl.obolibrary.org/obo/CHEBI_24432biological role
http://purl.obolibrary.org/obo/CHEBI_50906role
http://purl.obolibrary.org/obo/GO_0017145stem cell division
http://purl.obolibrary.org/obo/GO_0051301cell division
http://purl.obolibrary.org/obo/GO_0017144drug metabolic process
http://purl.obolibrary.org/obo/CHEBI_36711phosphoethanolamine
http://purl.obolibrary.org/obo/CHEBI_37734phosphoric ester
http://purl.obolibrary.org/obo/CHEBI_35701ester
http://purl.obolibrary.org/obo/CHEBI_36963organooxygen compound
http://purl.obolibrary.org/obo/CHEBI_25806oxygen molecular entity
http://purl.obolibrary.org/obo/CHEBI_36962organochalcogen compound
http://purl.obolibrary.org/obo/CHEBI_33304chalcogen molecular entity
http://purl.obolibrary.org/obo/CHEBI_25703organic phosphate
http://purl.obolibrary.org/obo/CHEBI_26020phosphate
http://purl.obolibrary.org/obo/CHEBI_26079phosphoric acid derivative
http://purl.obolibrary.org/obo/CHEBI_36359phosphorus oxoacid derivative
http://purl.obolibrary.org/obo/CHEBI_33241oxoacid derivative
http://purl.obolibrary.org/obo/CHEBI_37577heteroatomic molecular entity
http://purl.obolibrary.org/obo/CHEBI_36360phosphorus oxoacids and derivatives
http://purl.obolibrary.org/obo/CHEBI_25710organophosphorus compound
http://purl.obolibrary.org/obo/CHEBI_26082phosphorus molecular entity
http://purl.obolibrary.org/obo/GO_0017148negative regulation of translation
http://purl.obolibrary.org/obo/GO_0010629negative regulation of gene expression
http://purl.obolibrary.org/obo/GO_0032269negative regulation of cellular protein metabolic process
http://purl.obolibrary.org/obo/GO_0051248negative regulation of protein metabolic process
http://purl.obolibrary.org/obo/GO_0034249negative regulation of cellular amide metabolic process
http://purl.obolibrary.org/obo/GO_0051172negative regulation of nitrogen compound metabolic process
http://purl.obolibrary.org/obo/GO_2000113negative regulation of cellular macromolecule biosynthetic process
http://purl.obolibrary.org/obo/GO_0010558negative regulation of macromolecule biosynthetic process
http://purl.obolibrary.org/obo/GO_0010605negative regulation of macromolecule metabolic process
http://purl.obolibrary.org/obo/GO_0031327negative regulation of cellular biosynthetic process
http://purl.obolibrary.org/obo/GO_0009890negative regulation of biosynthetic process
http://purl.obolibrary.org/obo/GO_0031324negative regulation of cellular metabolic process
http://purl.obolibrary.org/obo/GO_0009892negative regulation of metabolic process
http://purl.obolibrary.org/obo/GO_0006417regulation of translation
http://purl.obolibrary.org/obo/GO_0032268regulation of cellular protein metabolic process
http://purl.obolibrary.org/obo/GO_0051246regulation of protein metabolic process
http://purl.obolibrary.org/obo/GO_0034248regulation of cellular amide metabolic process
http://purl.obolibrary.org/obo/GO_0051171regulation of nitrogen compound metabolic process
http://purl.obolibrary.org/obo/GO_2000112regulation of cellular macromolecule biosynthetic process
http://purl.obolibrary.org/obo/GO_0010556regulation of macromolecule biosynthetic process
http://purl.obolibrary.org/obo/GO_0031326regulation of cellular biosynthetic process
http://purl.obolibrary.org/obo/GO_0009889regulation of biosynthetic process
http://purl.obolibrary.org/obo/GO_0010608posttranscriptional regulation of gene expression
http://purl.obolibrary.org/obo/GO_0032787monocarboxylic acid metabolic process
http://purl.obolibrary.org/obo/PR_000046307PR:000046307 located_in GO:0005576
http://purl.obolibrary.org/obo/PR_000018949serum albumin, signal peptide removed form
http://purl.obolibrary.org/obo/PR_P02768serum albumin (human)
http://purl.obolibrary.org/obo/PR_000003918serum albumin
http://purl.obolibrary.org/obo/PR_000048962PR:000048962 located_in GO:0005886
http://purl.obolibrary.org/obo/PR_P08575receptor-type tyrosine-protein phosphatase C (human)
http://purl.obolibrary.org/obo/PR_000018306receptor-type tyrosine-protein phosphatase C, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000001006receptor-type tyrosine-protein phosphatase C
http://purl.obolibrary.org/obo/CHEBI_36735biladienes
http://purl.obolibrary.org/obo/CHEBI_25046linear tetrapyrrole
http://purl.obolibrary.org/obo/CHEBI_26932tetrapyrrole
http://purl.obolibrary.org/obo/CHEBI_38077polypyrrole
http://purl.obolibrary.org/obo/GO_0030141secretory granule
http://purl.obolibrary.org/obo/GO_0099503secretory vesicle
http://purl.obolibrary.org/obo/GO_0031410cytoplasmic vesicle
http://purl.obolibrary.org/obo/GO_0097708intracellular vesicle
http://purl.obolibrary.org/obo/GO_0031982vesicle
http://purl.obolibrary.org/obo/GO_0043227membrane-bounded organelle
http://purl.obolibrary.org/obo/GO_0043229intracellular organelle
http://purl.obolibrary.org/obo/GO_0043226organelle
http://purl.obolibrary.org/obo/GO_0110165cellular anatomical entity
http://purl.obolibrary.org/obo/GO_00171685-oxoprolinase (ATP-hydrolyzing) activity
http://purl.obolibrary.org/obo/GO_00168124-imidazolone-5-propionate + H2O => N-formiminoglutamate + 2H+
http://purl.obolibrary.org/obo/GO_0016810NAAA hydrolyses NAEs to FAs and ethanolamine
http://purl.obolibrary.org/obo/GO_0016787ABHD14B hydrolyses PNPB
http://purl.obolibrary.org/obo/CHEBI_24780imidazoles
http://purl.obolibrary.org/obo/CHEBI_23677diazole
http://purl.obolibrary.org/obo/CHEBI_68452azole
http://purl.obolibrary.org/obo/CHEBI_38101organonitrogen heterocyclic compound
http://purl.obolibrary.org/obo/CHEBI_38179monocyclic heteroarene
http://purl.obolibrary.org/obo/CHEBI_33833heteroarene
http://purl.obolibrary.org/obo/CHEBI_33659organic aromatic compound
http://purl.obolibrary.org/obo/CHEBI_33655aromatic compound
http://purl.obolibrary.org/obo/CHEBI_24532organic heterocyclic compound
http://purl.obolibrary.org/obo/CHEBI_5686heterocyclic compound
http://purl.obolibrary.org/obo/CHEBI_33832organic cyclic compound
http://purl.obolibrary.org/obo/CHEBI_72695organic molecule
http://purl.obolibrary.org/obo/CHEBI_33595cyclic compound
http://purl.obolibrary.org/obo/CHEBI_25367molecule
http://purl.obolibrary.org/obo/CHEBI_36357polyatomic entity
http://purl.obolibrary.org/obo/CHEBI_12777vitamin A
http://purl.obolibrary.org/obo/CHEBI_26537retinoid
http://purl.obolibrary.org/obo/CHEBI_23849diterpenoid
http://purl.obolibrary.org/obo/CHEBI_26873terpenoid
http://purl.obolibrary.org/obo/CHEBI_24913isoprenoid
http://purl.obolibrary.org/obo/CHEBI_18059lipid
http://purl.obolibrary.org/obo/PR_000010379alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
http://purl.obolibrary.org/obo/PR_000046326PR:000046326 located_in GO:0030133
http://purl.obolibrary.org/obo/PR_P05187alkaline phosphatase, placental type (human)
http://purl.obolibrary.org/obo/PR_000029067Homo sapiens protein
http://purl.obolibrary.org/obo/PR_000036194eukaryotic protein
http://purl.obolibrary.org/obo/PR_000018968alkaline phosphatase, placental type, signal peptide removed form
http://purl.obolibrary.org/obo/PR_000003969alkaline phosphatase, placental type
http://purl.obolibrary.org/obo/PR_000000001protein
http://purl.obolibrary.org/obo/PR_000018263amino acid chain
http://purl.obolibrary.org/obo/CHEBI_50047organic amino compound
http://purl.obolibrary.org/obo/CHEBI_35352organonitrogen compound
http://purl.obolibrary.org/obo/CHEBI_33285heteroorganic entity
http://purl.obolibrary.org/obo/CHEBI_50860organic molecular entity
http://purl.obolibrary.org/obo/CHEBI_33582carbon group molecular entity
http://purl.obolibrary.org/obo/CHEBI_51143nitrogen molecular entity
http://purl.obolibrary.org/obo/CHEBI_33302pnictogen molecular entity
http://purl.obolibrary.org/obo/CHEBI_33675p-block molecular entity
http://purl.obolibrary.org/obo/CHEBI_33579main group molecular entity
http://purl.obolibrary.org/obo/CHEBI_23367molecular entity
http://purl.obolibrary.org/obo/CHEBI_24431chemical entity
http://purl.obolibrary.org/obo/GO_0030154cell differentiation
http://purl.obolibrary.org/obo/GO_0048869cellular developmental process
http://purl.obolibrary.org/obo/GO_0032502developmental process
http://purl.obolibrary.org/obo/GO_0042133neurotransmitter metabolic process
http://purl.obolibrary.org/obo/GO_0001505regulation of neurotransmitter levels
http://purl.obolibrary.org/obo/GO_0042130negative regulation of T cell proliferation
http://purl.obolibrary.org/obo/GO_0050672negative regulation of lymphocyte proliferation
http://purl.obolibrary.org/obo/GO_0032945negative regulation of mononuclear cell proliferation
http://purl.obolibrary.org/obo/GO_0070664negative regulation of leukocyte proliferation
http://purl.obolibrary.org/obo/GO_0008285negative regulation of cell population proliferation
http://purl.obolibrary.org/obo/GO_0050868negative regulation of T cell activation
http://purl.obolibrary.org/obo/GO_1903038negative regulation of leukocyte cell-cell adhesion
http://purl.obolibrary.org/obo/GO_0022408negative regulation of cell-cell adhesion
http://purl.obolibrary.org/obo/GO_0007162negative regulation of cell adhesion
http://purl.obolibrary.org/obo/GO_0051250negative regulation of lymphocyte activation
http://purl.obolibrary.org/obo/GO_0002695negative regulation of leukocyte activation
http://purl.obolibrary.org/obo/GO_0050866negative regulation of cell activation
http://purl.obolibrary.org/obo/GO_0048523negative regulation of cellular process
http://purl.obolibrary.org/obo/GO_0002683negative regulation of immune system process
http://purl.obolibrary.org/obo/GO_0048519negative regulation of biological process
http://purl.obolibrary.org/obo/GO_0019725cellular homeostasis
http://purl.obolibrary.org/obo/GO_0042592homeostatic process
http://purl.obolibrary.org/obo/GO_0065008regulation of biological quality
HP:0003406Peripheral nerve compression
http://purl.obolibrary.org/obo/GO_0044782cilium organization
http://purl.obolibrary.org/obo/GO_0006996organelle organization
http://purl.obolibrary.org/obo/GO_0120036plasma membrane bounded cell projection organization
http://purl.obolibrary.org/obo/GO_0030030cell projection organization
http://purl.obolibrary.org/obo/GO_0016043cellular component organization
http://purl.obolibrary.org/obo/GO_0071840cellular component organization or biogenesis
HP:0003409Distal sensory impairment of all modalities
HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0100285EMG: impaired neuromuscular transmission
HP:0003457EMG abnormality
HP:0011804Abnormal muscle physiology
HP:0003011Abnormality of the musculature
HP:0003402Decreased miniature endplate potentials
HP:0003398Abnormal synaptic transmission at the neuromuscular junction
HP:0030191Abnormal peripheral nervous system synaptic transmission
HP:0012535Abnormal synaptic transmission
HP:0012638Abnormal nervous system physiology
HP:0003405Diffuse axonal swelling
http://purl.obolibrary.org/obo/GO_0042110T cell activation
HP:0003401Paresthesia
HP:0000763Sensory neuropathy
HP:0045010Abnormality of peripheral nerves
HP:0009830Peripheral neuropathy
HP:0003400Basal lamina onion bulb formation
HP:0003383Onion bulb formation
HP:0003130Abnormal peripheral myelination
HP:0012447Abnormal myelination
HP:0000759Abnormal peripheral nervous system morphology
HP:0410008Abnormality of the peripheral nervous system
HP:0003417Coronal cleft vertebrae
HP:0008428Vertebral clefting
HP:0003312Abnormal form of the vertebral bodies
HP:0003468Abnormal vertebral morphology
HP:0003419Low back pain
HP:0003418Back pain
HP:0012531Pain
HP:0025142Constitutional symptom
HP:0003414Atlantoaxial dislocation
http://purl.obolibrary.org/obo/GO_0042102positive regulation of T cell proliferation
http://purl.obolibrary.org/obo/GO_0050870positive regulation of T cell activation
http://purl.obolibrary.org/obo/GO_1903039positive regulation of leukocyte cell-cell adhesion
http://purl.obolibrary.org/obo/GO_0022409positive regulation of cell-cell adhesion
http://purl.obolibrary.org/obo/GO_0045785positive regulation of cell adhesion
http://purl.obolibrary.org/obo/GO_1903037regulation of leukocyte cell-cell adhesion
http://purl.obolibrary.org/obo/GO_0022407regulation of cell-cell adhesion
http://purl.obolibrary.org/obo/GO_0030155regulation of cell adhesion
http://purl.obolibrary.org/obo/GO_0050671positive regulation of lymphocyte proliferation
http://purl.obolibrary.org/obo/GO_0051251positive regulation of lymphocyte activation
http://purl.obolibrary.org/obo/GO_0002696positive regulation of leukocyte activation
http://purl.obolibrary.org/obo/GO_0050867positive regulation of cell activation
http://purl.obolibrary.org/obo/GO_0002684positive regulation of immune system process
http://purl.obolibrary.org/obo/GO_0032946positive regulation of mononuclear cell proliferation
http://purl.obolibrary.org/obo/GO_0070665positive regulation of leukocyte proliferation
http://purl.obolibrary.org/obo/GO_0008284positive regulation of cell population proliferation
http://purl.obolibrary.org/obo/GO_0048522positive regulation of cellular process
http://purl.obolibrary.org/obo/GO_0042129regulation of T cell proliferation
http://purl.obolibrary.org/obo/GO_0050670regulation of lymphocyte proliferation
http://purl.obolibrary.org/obo/GO_0032944regulation of mononuclear cell proliferation
http://purl.obolibrary.org/obo/GO_0070663regulation of leukocyte proliferation
http://purl.obolibrary.org/obo/GO_0042127regulation of cell population proliferation
http://purl.obolibrary.org/obo/GO_0050863regulation of T cell activation
http://purl.obolibrary.org/obo/GO_0051249regulation of lymphocyte activation
http://purl.obolibrary.org/obo/GO_0002694regulation of leukocyte activation
http://purl.obolibrary.org/obo/GO_0002682regulation of immune system process
http://purl.obolibrary.org/obo/GO_0050865regulation of cell activation
HP:0003413Atlantoaxial abnormality
HP:0003416Spinal canal stenosis
HP:0000925Abnormality of the vertebral column
HP:0009121Abnormal axial skeleton morphology
HP:0002143Abnormality of the spinal cord
HP:0002011Morphological central nervous system abnormality
HP:0012639Abnormal nervous system morphology
HP:0000707Abnormality of the nervous system
http://purl.obolibrary.org/obo/GO_0042100B cell proliferation
http://purl.obolibrary.org/obo/GO_0046651lymphocyte proliferation
http://purl.obolibrary.org/obo/GO_0032943mononuclear cell proliferation
http://purl.obolibrary.org/obo/GO_0070661leukocyte proliferation
http://purl.obolibrary.org/obo/GO_0008283cell population proliferation
http://purl.obolibrary.org/obo/GO_0042113B cell activation
http://purl.obolibrary.org/obo/GO_0046649lymphocyte activation
http://purl.obolibrary.org/obo/GO_0045321leukocyte activation
http://purl.obolibrary.org/obo/GO_0001775cell activation
http://purl.obolibrary.org/obo/GO_0019724B cell mediated immunity
http://purl.obolibrary.org/obo/GO_0002449lymphocyte mediated immunity
http://purl.obolibrary.org/obo/GO_0002443leukocyte mediated immunity
http://purl.obolibrary.org/obo/GO_0002252immune effector process
http://purl.obolibrary.org/obo/GO_0002460adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains
http://purl.obolibrary.org/obo/GO_0002250adaptive immune response
http://purl.obolibrary.org/obo/GO_0006955immune response
http://purl.obolibrary.org/obo/GO_0002376immune system process
http://purl.obolibrary.org/obo/GO_0050896response to stimulus
http://purl.obolibrary.org/obo/GO_0042105alpha-beta T cell receptor complex
http://purl.obolibrary.org/obo/GO_0042101T cell receptor complex
http://purl.obolibrary.org/obo/GO_0098802plasma membrane signaling receptor complex
http://purl.obolibrary.org/obo/GO_0043235receptor complex
http://purl.obolibrary.org/obo/GO_0098797plasma membrane protein complex
http://purl.obolibrary.org/obo/GO_0098796membrane protein complex
http://purl.obolibrary.org/obo/GO_0032991protein-containing complex
http://purl.obolibrary.org/obo/GO_0005575cellular_component
http://purl.obolibrary.org/obo/BFO_0000030object
HP:0003411Proximal femoral metaphyseal irregularity
HP:0030291Lower-limb metaphyseal irregularity
HP:0003025Metaphyseal irregularity
HP:0006431Proximal femoral metaphyseal abnormality
HP:0006489Abnormality of the femoral metaphysis
HP:0006490Abnormality of lower-limb metaphyses
HP:0000944Abnormality of the metaphysis
HP:0003366Abnormality of the femoral neck or head region
HP:0002823Abnormality of femur morphology
HP:0011314Abnormality of long bone morphology
HP:0040069Abnormal lower limb bone morphology
HP:0002814Abnormality of the lower limb
HP:0002813Abnormality of limb bone morphology
HP:0011844Abnormal appendicular skeleton morphology
HP:0011842Abnormality of skeletal morphology
HP:0040068Abnormality of limb bone
HP:0040064Abnormality of limbs
HP:0000924Abnormality of the skeletal system
HP:0000118Phenotypic abnormality
HP:0000001All
http://purl.obolibrary.org/obo/GO_0019747regulation of isoprenoid metabolic process
http://purl.obolibrary.org/obo/GO_0031323regulation of cellular metabolic process
http://purl.obolibrary.org/obo/GO_0050794regulation of cellular process
http://purl.obolibrary.org/obo/GO_0019216regulation of lipid metabolic process
http://purl.obolibrary.org/obo/GO_0080090regulation of primary metabolic process
http://purl.obolibrary.org/obo/GO_0019748secondary metabolic process
http://purl.obolibrary.org/obo/UBERON_0015069distal carpal cartilage element
http://purl.obolibrary.org/obo/UBERON_0015068distal carpal endochondral element
http://purl.obolibrary.org/obo/UBERON_0018100distal mesopodial cartilage element
http://purl.obolibrary.org/obo/UBERON_0015060sphenoid endochondral element
http://purl.obolibrary.org/obo/UBERON_0010313neural crest-derived structure
http://purl.obolibrary.org/obo/UBERON_0003084heart primordium
http://purl.obolibrary.org/obo/UBERON_0003086caudal artery
http://purl.obolibrary.org/obo/UBERON_0003524tail blood vessel
http://purl.obolibrary.org/obo/UBERON_0003513trunk blood vessel
http://purl.obolibrary.org/obo/UBERON_0004573systemic artery
http://purl.obolibrary.org/obo/UBERON_0001637artery
http://purl.obolibrary.org/obo/UBERON_0003509arterial blood vessel
http://purl.obolibrary.org/obo/UBERON_0001981blood vessel
http://purl.obolibrary.org/obo/UBERON_0000055vessel
http://purl.obolibrary.org/obo/UBERON_0004111anatomical conduit
http://purl.obolibrary.org/obo/UBERON_0003089sclerotome
http://purl.obolibrary.org/obo/UBERON_0005856developing mesenchymal condensation
http://purl.obolibrary.org/obo/UBERON_0011585cell condensation
http://purl.obolibrary.org/obo/UBERON_0007530migrating mesenchyme population
http://purl.obolibrary.org/obo/GO_0019752carboxylic acid metabolic process
http://purl.obolibrary.org/obo/GO_0043436oxoacid metabolic process
http://purl.obolibrary.org/obo/GO_0006082organic acid metabolic process
http://purl.obolibrary.org/obo/GO_0044237cellular metabolic process
http://purl.obolibrary.org/obo/GO_0009987cellular process
http://purl.obolibrary.org/obo/GO_0071704organic substance metabolic process
http://purl.obolibrary.org/obo/GO_0044281small molecule metabolic process
http://purl.obolibrary.org/obo/GO_0008152metabolic process
http://purl.obolibrary.org/obo/UBERON_0003080anterior neural tube
http://purl.obolibrary.org/obo/UBERON_0003081lateral plate mesoderm
http://purl.obolibrary.org/obo/UBERON_0007524dense mesenchyme tissue
http://purl.obolibrary.org/obo/UBERON_0003104mesenchyme
http://purl.obolibrary.org/obo/UBERON_0002050embryonic structure
http://purl.obolibrary.org/obo/UBERON_0003082myotome
http://purl.obolibrary.org/obo/UBERON_0017650developing mesenchymal structure
http://purl.obolibrary.org/obo/UBERON_0003083trunk neural crest
http://purl.obolibrary.org/obo/UBERON_0015077centrale cartilage
http://purl.obolibrary.org/obo/UBERON_0015067centrale endochondral element
http://purl.obolibrary.org/obo/UBERON_0015079proximal carpal cartilage
http://purl.obolibrary.org/obo/GO_0005102signaling receptor binding
http://purl.obolibrary.org/obo/GO_0005515An anchoring protein, ZFYVE9 (SARA), recruits SMAD2/3
http://purl.obolibrary.org/obo/GO_0005488binding
http://purl.obolibrary.org/obo/UBERON_0003098optic stalk
http://purl.obolibrary.org/obo/UBERON_0010371ecto-epithelium
http://purl.obolibrary.org/obo/UBERON_0034705developing neuroepithelium
http://purl.obolibrary.org/obo/UBERON_0000483epithelium
http://purl.obolibrary.org/obo/UBERON_0003099cranial neural crest
http://purl.obolibrary.org/obo/UBERON_0005291embryonic tissue
http://purl.obolibrary.org/obo/UBERON_0010314structure with developmental contribution from neural crest
http://purl.obolibrary.org/obo/UBERON_0004121ectoderm-derived structure
http://purl.obolibrary.org/obo/UBERON_0003091thyroid primordium
http://purl.obolibrary.org/obo/UBERON_0004119endoderm-derived structure
http://purl.obolibrary.org/obo/UBERON_0001048primordium
http://purl.obolibrary.org/obo/UBERON_0005423developing anatomical structure
http://purl.obolibrary.org/obo/UBERON_0000479tissue
http://purl.obolibrary.org/obo/UBERON_0015086distal carpal bone 1 pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0015085distal carpal bone 1 cartilage
http://purl.obolibrary.org/obo/UBERON_0015088distal carpal bone 2 cartilage
http://purl.obolibrary.org/obo/GO_0032729positive regulation of interferon-gamma production
http://purl.obolibrary.org/obo/GO_0032649regulation of interferon-gamma production
http://purl.obolibrary.org/obo/UBERON_0015089distal carpal bone 2 pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0015087distal carpal bone 2 endochondral element
http://purl.obolibrary.org/obo/UBERON_0015080proximal carpal bone pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0015078proximal carpal endochondral element
http://purl.obolibrary.org/obo/UBERON_0015082proximal tarsal cartilage
http://purl.obolibrary.org/obo/UBERON_0035129pes cartilage element
http://purl.obolibrary.org/obo/UBERON_0010885hindlimb cartilage element
http://purl.obolibrary.org/obo/UBERON_0017751proximal mesopodial cartilage element
http://purl.obolibrary.org/obo/UBERON_0015084distal carpal bone 1 endochondral element
http://purl.obolibrary.org/obo/GO_0032722positive regulation of chemokine production
http://purl.obolibrary.org/obo/GO_0032642regulation of chemokine production
http://purl.obolibrary.org/obo/GO_0001819positive regulation of cytokine production
http://purl.obolibrary.org/obo/GO_0010628positive regulation of gene expression
http://purl.obolibrary.org/obo/GO_0010604positive regulation of macromolecule metabolic process
http://purl.obolibrary.org/obo/GO_0009893positive regulation of metabolic process
http://purl.obolibrary.org/obo/GO_0001817regulation of cytokine production
http://purl.obolibrary.org/obo/GO_0010468regulation of gene expression
http://purl.obolibrary.org/obo/GO_0060255regulation of macromolecule metabolic process
http://purl.obolibrary.org/obo/GO_0019222regulation of metabolic process
http://purl.obolibrary.org/obo/GO_0051240positive regulation of multicellular organismal process
http://purl.obolibrary.org/obo/GO_0051239regulation of multicellular organismal process
http://purl.obolibrary.org/obo/GO_0048518positive regulation of biological process
http://purl.obolibrary.org/obo/GO_0050789regulation of biological process
http://purl.obolibrary.org/obo/GO_0065007biological regulation
http://purl.obolibrary.org/obo/GO_0008150biological_process
http://purl.obolibrary.org/obo/UBERON_0015083proximal tarsal bone pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0015081proximal tarsal endochondral element
http://purl.obolibrary.org/obo/UBERON_0017750proximal mesopodial endochondral element
http://purl.obolibrary.org/obo/UBERON_0010886hindlimb pre-cartilage condensation
http://purl.obolibrary.org/obo/GO_0017113dihydropyrimidine dehydrogenase (NADP+) activity
http://purl.obolibrary.org/obo/GO_0016628Defective SRD5A3 does not reduce pPNOL to DCHOL
http://purl.obolibrary.org/obo/GO_0016627COX15 transforms heme O to heme A
http://purl.obolibrary.org/obo/GO_0016491Diiodinated tyrosine can be deiodinated
http://purl.obolibrary.org/obo/GO_0003824catalytic activity
http://purl.obolibrary.org/obo/GO_0003674molecular_function
http://purl.obolibrary.org/obo/BFO_0000015process
http://purl.obolibrary.org/obo/BFO_0000003occurrent
http://purl.obolibrary.org/obo/UBERON_0015099distal tarsal endochondral element
http://purl.obolibrary.org/obo/UBERON_0018099distal mesopodial endochondral element
http://purl.obolibrary.org/obo/UBERON_0015050tarsus endochondral element
http://purl.obolibrary.org/obo/UBERON_0015022hindlimb endochondral element
http://purl.obolibrary.org/obo/UBERON_0015091distal carpal bone 3 cartilage
http://purl.obolibrary.org/obo/UBERON_0015092distal carpal bone 3 pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0015090distal carpal bone 3 endochondral element
http://purl.obolibrary.org/obo/UBERON_0015095distal carpal bone 4 pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010884forelimb bone pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0010882limb bone pre-cartilage condensation
http://purl.obolibrary.org/obo/UBERON_0015094distal carpal bone 4 cartilage
http://purl.obolibrary.org/obo/UBERON_0035128manus cartilage element
http://purl.obolibrary.org/obo/UBERON_0010883forelimb cartilage element
http://purl.obolibrary.org/obo/UBERON_0015064autopod cartilage
http://purl.obolibrary.org/obo/UBERON_0010881limb cartilage element
http://purl.obolibrary.org/obo/UBERON_0007844cartilage element
http://purl.obolibrary.org/obo/UBERON_0015093distal carpal bone 4 endochondral element
http://purl.obolibrary.org/obo/UBERON_0015049carpus endochondral element
http://purl.obolibrary.org/obo/UBERON_0015063autopod endochondral element
http://purl.obolibrary.org/obo/UBERON_0015021forelimb endochondral element
http://purl.obolibrary.org/obo/UBERON_0015061limb endochondral element
http://purl.obolibrary.org/obo/UBERON_0010363endochondral element
http://purl.obolibrary.org/obo/UBERON_0004765skeletal element
http://purl.obolibrary.org/obo/UBERON_0000062organ
http://purl.obolibrary.org/obo/BFO_0000040material entity
http://purl.obolibrary.org/obo/UBERON_0010000multicellular anatomical structure
http://purl.obolibrary.org/obo/UBERON_0004120mesoderm-derived structure
http://purl.obolibrary.org/obo/CARO_0000000anatomical entity
http://purl.obolibrary.org/obo/CARO_0030000biological entity
http://purl.obolibrary.org/obo/UBERON_0000061anatomical structure
http://purl.obolibrary.org/obo/UBERON_0000465material anatomical entity
http://purl.obolibrary.org/obo/UBERON_0001062anatomical entity
http://purl.obolibrary.org/obo/BFO_0000004independent continuant
http://purl.obolibrary.org/obo/BFO_0000002continuant
http://www.w3.org/2002/07/owl#Thinghttp://www.w3.org/2002/07/owl#Thing

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
Source The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code